chr10:43119724:GCAGTAT> Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,615,172-43,615,178 
hg38 chr10:43,119,724-43,119,730

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.2586_2592delGCAGTAT NP_065681.1:p.Met862IlefsTer5
NM_020975.4:c.2586_2592delGCAGTAT NP_066124.1:p.Met862IlefsTer5
Ensemble ENST00000340058.6:c.2586_2592delGCAGTAT ENST00000340058.6:p.Met862IlefsTer5
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 164761 OMIM
HGNC 9967 HGNC
Ensembl ENSG00000165731 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 2015-01-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.2586_2592del (p.Met862fs) AND not provided 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
rs794727130 dbSNP
Genome
hg38
Position
chr10:43,119,724-43,119,730
Variant Type
snv
Reference Allele
GCAGTAT
Alternative Allele
-
Genome browser