Variant #0000288818 (NC_000006.11:g.146755515T>G, GRM1(NM_001278064.1):c.3168T>G)

Chromosome 6
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.146755515T>G
DNA change (hg38) g.146434379T>G
Published as GRM1(NM_001278064.1):c.3168T>G (p.G1056=), GRM1(NM_001278064.2):c.3168T>G (p.G1056=)
ISCN -
DB-ID GRM1_000033 See all 2 reported entries
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) 0.56453 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRM1 NM_000838.3 -/. - c.3168T>G r.(?) p.(Gly1056=)
GRM1 NM_001278064.1 -/. - c.3168T>G r.(?) p.(Gly1056=)