chr7:5741404:CT> Detail (hg38) (RNF216)

Information

Genome

Assembly Position
hg19 chr7:5,781,035-5,781,036 
hg38 chr7:5,741,404-5,741,405

HGVS

Type Transcript Protein
RefSeq NM_207111.3:c.441_442delAG NP_996994.1:p.Glu148AspfsTer16
NM_207116.2:c.441_442delAG NP_996999.1:p.Glu148AspfsTer16
Ensemble ENST00000389902.8:c.612_613delAG ENST00000389902.8:p.Glu205AspfsTer16
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 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.241 Cerebellar Ataxia and Hypogonadotropic Hypogonadism NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs387907370 dbSNP
Genome
hg38
Position
chr7:5,741,404-5,741,405
Variant Type
snv
Reference Allele
CT
Alternative Allele
-
Genome browser