Variant #0000527417 (NC_000006.11:g.146755162G>A, GRM1(NM_001278064.1):c.2815G>A)

Chromosome 6
Allele Unknown
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.146755162G>A
DNA change (hg38) g.146434026G>A
Published as GRM1(NM_001278064.1):c.2815G>A (p.G939S)
ISCN -
DB-ID GRM1_000053
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRM1 NM_000838.3 ?/. - c.2815G>A r.(?) p.(Gly939Ser)
GRM1 NM_001278064.1 ?/. - c.2815G>A r.(?) p.(Gly939Ser)