chr7:128398557:C>T Detail (hg38) (IMPDH1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr7:128,038,611-128,038,611 View the variant detail on this assembly version.
hg38	chr7:128,398,557-128,398,557

HGVS

IMPDH1

Type	Transcript	Protein
RefSeq	NM_000883.3:c.931G>A	NP_000874.2:p.Asp311Asn
	NM_001304521.1:c.823G>A	NP_001291450.1:p.Asp275Asn
	NM_183243.2:c.823G>A	NP_899066.1:p.Asp275Asn
	NM_001102605.1:c.901G>A	NP_001096075.1:p.Asp301Asn
	NM_001142576.1:c.832G>A	NP_001136048.1:p.Asp278Asn
	NM_001142573.1:c.673G>A	NP_001136045.1:p.Asp225Asn
	NM_001142574.1:c.661G>A	NP_001136046.1:p.Asp221Asn
	NM_001142575.1:c.601G>A	NP_001136047.1:p.Asp201Asn
Ensemble	ENST00000338791.11:c.931G>A	ENST00000338791.11:p.Asp311Asn
	ENST00000348127.11:c.823G>A	ENST00000348127.11:p.Asp275Asn
	ENST00000354269.9:c.901G>A	ENST00000354269.9:p.Asp301Asn
	ENST00000419067.6:c.832G>A	ENST00000419067.6:p.Asp278Asn
	ENST00000470772.5:c.673G>A	ENST00000470772.5:p.Asp225Asn
	ENST00000480861.5:c.661G>A	ENST00000480861.5:p.Asp221Asn
	ENST00000496200.5:c.601G>A	ENST00000496200.5:p.Asp201Asn

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:<0.001
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

IMPDH1

Type	Database	ID	Link
Gene	MIM	146690	OMIM
	HGNC	6052	HGNC
	Ensembl	ENSG00000106348	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	unknown	MGS000073 (TMGS000185)	Kenjiro Kosaki	Keio University IRUD

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-04-08	criteria provided, single submitter	retinitis pigmentosa 10	germline	Detail
Pathogenic	2023-12-11	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2023-10-01	criteria provided, single submitter	Retinal dystrophy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.005	Autosomal dominant retinitis pigmentosa	Two mutations of IMPDH1 (inosine 5'-monophosphate dehydrogenase type I), R224P a...	BeFree	15882147	Detail
0.360	retinitis pigmentosa 10	NA	CLINVAR		Detail
<0.001	retinitis pigmentosa 10	An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G&gt...	BeFree	16671097	Detail
<0.001	Deficiency of phosphoglycerate kinase	An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G&gt...	BeFree	16671097	Detail
0.361	phosphoglycerate kinase 1 deficiency	An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G&gt...	BeFree	16671097	Detail
<0.001	Autosomal dominant retinitis pigmentosa	An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G&gt...	BeFree	16671097	Detail
<0.001	Deficiency of phosphoglycerate kinase	An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G&gt...	BeFree	16671097	Detail
0.005	Autosomal dominant retinitis pigmentosa	Phenotypic characterization of a large family with RP10 autosomal-dominant retin...	BeFree	16214101	Detail
<0.001	Autosomal dominant retinitis pigmentosa	An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G&gt...	BeFree	16671097	Detail
<0.001	retinitis pigmentosa 10	An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G&gt...	BeFree	16671097	Detail
0.262	retinitis pigmentosa	Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and ...	BeFree	15851576	Detail
0.005	Autosomal dominant retinitis pigmentosa	An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G&gt...	BeFree	16671097	Detail
<0.001	phosphoglycerate kinase 1 deficiency	An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G&gt...	BeFree	16671097	Detail
<0.001	phosphoglycerate kinase 1 deficiency	An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G&gt...	BeFree	16671097	Detail
0.121	Deficiency of phosphoglycerate kinase	An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G&gt...	BeFree	16671097	Detail
0.360	retinitis pigmentosa 10	An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G&gt...	BeFree	16671097	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn) AND Retinitis pigmentosa 10	ClinVar	Detail
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn) AND not provided	ClinVar	Detail
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn) AND Retinal dystrophy	ClinVar	Detail
Two mutations of IMPDH1 (inosine 5'-monophosphate dehydrogenase type I), R224P and D226N, have recen...	DisGeNET	Detail
NA	DisGeNET	Detail
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro...	DisGeNET	Detail
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro...	DisGeNET	Detail
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro...	DisGeNET	Detail
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro...	DisGeNET	Detail
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro...	DisGeNET	Detail
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an ...	DisGeNET	Detail
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro...	DisGeNET	Detail
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro...	DisGeNET	Detail
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features as...	DisGeNET	Detail
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro...	DisGeNET	Detail
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro...	DisGeNET	Detail
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro...	DisGeNET	Detail
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro...	DisGeNET	Detail
An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs121912550 dbSNP
Genome: hg38
Position: chr7:128,398,557-128,398,557
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Filtering Status (HGVD): PASS
Filtering Status (HGVD): LowQual
# of samples (HGVD): 1179
Mean of sample read depth (HGVD): 17.76
Standard deviation of sample read depth (HGVD): 17.53
Number of reference allele (HGVD): 2356
Number of alternative allele (HGVD): 1
Allele Frequency (HGVD): 4.2426813746287653E-4
Gene Symbol (HGVD): IMPDH1
East Asian Chromosome Counts (ExAC): 8640
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120234
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.317114959162966E-6

Genome browser

chr7:128398557:C>T Detail (hg38) (IMPDH1)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript