chr7:116556798:T>C Detail (hg38) (CAV1)

Information

Genome

Assembly Position
hg19 chr7:116,196,852-116,196,852 View the variant detail on this assembly version.
hg38 chr7:116,556,798-116,556,798

HGVS

Type Transcript Protein
RefSeq NM_001753.4:c.196-2148T>C
NM_001172896.1:c.103-2148T>C
NM_001172897.1:c.103-2148T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601047 OMIM
HGNC 1527 HGNC
Ensembl ENSG00000105974 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Sensorineural Hearing Loss (disorder) Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL a... BeFree 23560644 Detail
<0.001 Sensorineural Hearing Loss (disorder) Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL a... BeFree 23560644 Detail
<0.001 Sensorineural Hearing Loss (disorder) Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL a... BeFree 23560644 Detail
Annotation

Annotations

DescrptionSourceLinks
Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease... DisGeNET Detail
Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease... DisGeNET Detail
Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3840634 dbSNP
Genome
hg38
Position
chr7:116,556,798-116,556,798
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser