Variant #0000336581 (NC_000016.9:g.89985940G>C, NM_002386.3:c.274G>C (MC1R))

Individual ID 00074550
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.89985940G>C
DNA change (hg38) g.89919532G>C
Published as -
ISCN -
DB-ID MC1R_000017 See all 2 reported entries
Variant remarks -
Reference PubMed: Box 1997
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/25 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-01-20 17:16:52 +01:00 (CET)
Date last edited 2018-01-20 17:54:28 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MC1R NM_002386.3 -?/. 1 c.274G>C r.(?) p.(Val92Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000074713 DNA PCR;SEQ - - MC1R 3 Jamie Zeegers


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