chr7:128038485:C>T 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	chr7:128,038,485-128,038,485
hg38	chr7:128,398,431-128,398,431 View the variant detail on this assembly version.

HGVS

IMPDH1

Type	Transcript	Protein
RefSeq	NM_000883.3:c.1057G>A	NP_000874.2:p.Val353Ile
	NM_001304521.1:c.949G>A	NP_001291450.1:p.Val317Ile
	NM_183243.2:c.949G>A	NP_899066.1:p.Val317Ile
	NM_001102605.1:c.1027G>A	NP_001096075.1:p.Val343Ile
	NM_001142576.1:c.958G>A	NP_001136048.1:p.Val320Ile
	NM_001142573.1:c.799G>A	NP_001136045.1:p.Val267Ile
	NM_001142574.1:c.787G>A	NP_001136046.1:p.Val263Ile
	NM_001142575.1:c.727G>A	NP_001136047.1:p.Val243Ile
Ensemble	ENST00000338791.11:c.1057G>A	ENST00000338791.11:p.Val353Ile
	ENST00000348127.11:c.949G>A	ENST00000348127.11:p.Val317Ile
	ENST00000354269.9:c.1027G>A	ENST00000354269.9:p.Val343Ile
	ENST00000419067.6:c.958G>A	ENST00000419067.6:p.Val320Ile
	ENST00000470772.5:c.799G>A	ENST00000470772.5:p.Val267Ile
	ENST00000480861.5:c.787G>A	ENST00000480861.5:p.Val263Ile
	ENST00000496200.5:c.727G>A	ENST00000496200.5:p.Val243Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

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	COSM1673521	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
Uncertain significance	2022-09-10	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	retinitis pigmentosa 10	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile) AND Retinitis pigmentosa 10	ClinVar	Detail
NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile) AND not provided	ClinVar	Detail
NA	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: rs121912551 dbSNP
Genome: hg19
Position: chr7:128,038,485-128,038,485
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8610
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): 117822
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.394951706811971E-5

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