chr10:43120184:C>T Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,615,632-43,615,632 View the variant detail on this assembly version.
hg38 chr10:43,120,184-43,120,184

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.2711C>T NP_065681.1:p.Ser904Phe
NM_020975.4:c.2711C>T NP_066124.1:p.Ser904Phe
Ensemble ENST00000340058.6:c.2711C>T ENST00000340058.6:p.Ser904Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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 COSM6438204 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2017-06-18 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2020-11-20 criteria provided, single submitter multiple endocrine neoplasia type 2A inherited Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.592 multiple endocrine neoplasia type 2B NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.2711C>T (p.Ser904Phe) AND not provided ClinVar Detail
NM_020975.6(RET):c.2711C>T (p.Ser904Phe) AND Multiple endocrine neoplasia type 2A 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
rs267607011 dbSNP
Genome
hg38
Position
chr10:43,120,184-43,120,184
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser