Variant #0000527406 (NC_000006.11:g.146480775_146480778del, GRM1(NM_001278064.1):c.950+42_950+45del)

Chromosome 6
Allele Unknown
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.146480775_146480778del
DNA change (hg38) g.146159639_146159642del
Published as GRM1(NM_000838.3):c.950+14_950+17del (p.?), GRM1(NM_001278064.2):c.950+42_950+45delTCTC, GRM1(NM_001278065.2):c.950+42_950+45delTCTC
ISCN -
DB-ID GRM1_000044 See all 3 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) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRM1 NM_000838.3 -?/. - c.950+42_950+45del r.(=) p.(=)
GRM1 NM_001278064.1 -?/. - c.950+42_950+45del r.(=) p.(=)