chr15:28447255:T>G Detail (hg19) (HERC2)

Information

Genome

Assembly Position
hg19 chr15:28,447,255-28,447,255
hg38 chr15:28,202,109-28,202,109 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004667.5:c.7617+4A>C
Ensemble ENST00000261609.13:c.7617+4A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
Review star
Show details
Links
Type Database ID Link
Gene MIM 605837 OMIM
HGNC 4868 HGNC
Ensembl ENSG00000128731 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
not provided no assertion provided Wolfram syndrome 1,Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6 germline Detail
not provided no assertion provided Wolfram syndrome 1,Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6 germline Detail
not provided no assertion provided Wolfram syndrome 1,Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_004667.6(HERC2):c.7617+4A>C AND multiple conditions ClinVar Detail
NM_004667.6(HERC2):c.7617+4A>C AND multiple conditions ClinVar Detail
NM_004667.6(HERC2):c.7617+4A>C AND multiple conditions ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1567006110 dbSNP
Genome
hg19
Position
chr15:28,447,255-28,447,255
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser