chr7:120478830:C>T Detail (hg19) (TSPAN12)

Information

Genome

Assembly Position
hg19 chr7:120,478,830-120,478,830
hg38 chr7:120,838,776-120,838,776 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_012338.3:c.285+1G>A
Ensemble ENST00000222747.8:c.285+1G>A
ENST00000415871.5:c.285+1G>A
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 2012-05-14 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.285+1G>A AND Exudative vitreoretinopathy 5 ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587777285 dbSNP
Genome
hg19
Position
chr7:120,478,830-120,478,830
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser