chr7:5680916:G>A Detail (hg19) (RNF216)

Information

Genome

Assembly Position
hg19 chr7:5,680,916-5,680,916
hg38 chr7:5,641,285-5,641,285 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_207111.3:c.2080C>T NP_996994.1:p.Arg694Cys
NM_207116.2:c.2080C>T NP_996999.1:p.Arg694Cys
Ensemble ENST00000389902.8:c.2251C>T ENST00000389902.8:p.Arg751Cys
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 609948 OMIM
HGNC 21698 HGNC
Ensembl ENSG00000011275 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 2013-05-23 no assertion criteria provided Cerebellar ataxia-hypogonadism syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.241 Cerebellar Ataxia and Hypogonadotropic Hypogonadism NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_207111.4(RNF216):c.2251C>T (p.Arg751Cys) AND Cerebellar ataxia-hypogonadism syndrome 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
rs387907368 dbSNP
Genome
hg19
Position
chr7:5,680,916-5,680,916
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser