chr7:120788801:C>G Detail (hg38) (TSPAN12)

Information

Genome

Assembly Position
hg19 chr7:120,428,855-120,428,855 View the variant detail on this assembly version.
hg38 chr7:120,788,801-120,788,801

HGVS

Type Transcript Protein
RefSeq NM_012338.3:c.709G>C NP_036470.1:p.Ala237Pro
Ensemble ENST00000222747.8:c.709G>C ENST00000222747.8:p.Ala237Pro
ENST00000415871.5:c.709G>C ENST00000415871.5:p.Ala237Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2010-02-12 no assertion criteria provided exudative vitreoretinopathy 5 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.709G>C (p.Ala237Pro) AND Exudative vitreoretinopathy 5 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
rs267607154 dbSNP
Genome
hg38
Position
chr7:120,788,801-120,788,801
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser