chr7:128038616:C>G Detail (hg19) (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	chr7:128,038,616-128,038,616
hg38	chr7:128,398,562-128,398,562 View the variant detail on this assembly version.

HGVS

IMPDH1

Type	Transcript	Protein
RefSeq	NM_000883.3:c.926G>C	NP_000874.2:p.Arg309Pro
	NM_001304521.1:c.818G>C	NP_001291450.1:p.Arg273Pro
	NM_183243.2:c.818G>C	NP_899066.1:p.Arg273Pro
	NM_001102605.1:c.896G>C	NP_001096075.1:p.Arg299Pro
	NM_001142576.1:c.827G>C	NP_001136048.1:p.Arg276Pro
	NM_001142573.1:c.668G>C	NP_001136045.1:p.Arg223Pro
	NM_001142574.1:c.656G>C	NP_001136046.1:p.Arg219Pro
	NM_001142575.1:c.596G>C	NP_001136047.1:p.Arg199Pro
Ensemble	ENST00000338791.11:c.926G>C	ENST00000338791.11:p.Arg309Pro
	ENST00000348127.11:c.818G>C	ENST00000348127.11:p.Arg273Pro
	ENST00000354269.9:c.896G>C	ENST00000354269.9:p.Arg299Pro
	ENST00000419067.6:c.827G>C	ENST00000419067.6:p.Arg276Pro
	ENST00000470772.5:c.668G>C	ENST00000470772.5:p.Arg223Pro
	ENST00000480861.5:c.656G>C	ENST00000480861.5:p.Arg219Pro
	ENST00000496200.5:c.596G>C	ENST00000496200.5:p.Arg199Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2002-03-01	no assertion criteria provided	retinitis pigmentosa 10	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
0.005	Autosomal dominant retinitis pigmentosa	A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal ...	BeFree	15465556	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro) AND Retinitis pigmentosa 10	ClinVar	Detail
NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro) 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
A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis p...	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: rs121912552 dbSNP
Genome: hg19
Position: chr7:128,038,616-128,038,616
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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