chr7:120815787:A>T Detail (hg38) (TSPAN12)

Information

Genome

Assembly Position
hg19 chr7:120,455,841-120,455,841 View the variant detail on this assembly version.
hg38 chr7:120,815,787-120,815,787

HGVS

Type Transcript Protein
RefSeq NM_012338.3:c.302T>A NP_036470.1:p.Leu101His
Ensemble ENST00000222747.8:c.302T>A ENST00000222747.8:p.Leu101His
ENST00000415871.5:c.302T>A ENST00000415871.5:p.Leu101His
Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 613138 OMIM
HGNC 21641 HGNC
Ensembl ENSG00000106025 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 autosomal-dominant familial exudative vitreoretinopathy germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2010-02-12 no assertion criteria provided exudative vitreoretinopathy 5 germline Detail
Uncertain significance 2022-03-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 exudative vitreoretinopathy 5 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_012338.4(TSPAN12):c.302T>A (p.Leu101His) AND Exudative vitreoretinopathy 5 ClinVar Detail
NM_012338.4(TSPAN12):c.302T>A (p.Leu101His) 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
rs267607152 dbSNP
Genome
hg38
Position
chr7:120,815,787-120,815,787
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser