chr6:49604369:GAGG>TC Detail (hg19) (RHAG)

Information

Genome

Assembly Position
hg19 chr6:49,604,369-49,604,372
hg38 chr6:49,636,656-49,636,659 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000324.2:c.154_157delinsGA NP_000315.2:p.Pro52AspfsTer57
Ensemble ENST00000371175.10:c.154_157delinsGA ENST00000371175.10:p.Pro52AspfsTer57
ENST00000646272.1:c.154_157delinsGA ENST00000646272.1:p.Pro52AspfsTer57
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 180297 OMIM
HGNC 10006 HGNC
Ensembl ENSG00000112077 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 1996-02-01 no assertion criteria provided Rh-null, regulator type germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000324.3(RHAG):c.154_157delinsGA (p.Pro52fs) AND Rh-null, regulator type ClinVar 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
rs387906519 dbSNP
Genome
hg19
Position
chr6:49,604,369-49,604,372
Variant Type
snv
Reference Allele
GAGG
Alternative Allele
TC
Genome browser