Variant #0000647897 (NC_000010.10:g.43601830G>A, NM_020975.4:c.874G>A (RET))

Individual ID 00290040
Chromosome 10
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.43601830G>A
DNA change (hg38) g.43106382G>A
Published as -
ISCN -
DB-ID RET_000284 See all 2 reported entries
Variant remarks conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs34682185
Origin Germline
Segregation -
Frequency 7/2794 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00057 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-03-11 19:46:11 +01:00 (CET)
Date last edited 2025-02-20 01:25:16 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RET NM_020975.4 ?/. - c.874G>A r.(?) p.(Val292Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291208 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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