Genomic variant #0000570070

Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.57429541C>G
DNA change (hg38) -
Published as GNAS(NM_001077490.1):c.1034C>G (p.(Pro345Arg)), GNAS(NM_001077490.2):c.1034C>G (p.P345R)
ISCN -
DB-ID GNAS_000367 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 (large NGS studies) 0.00142 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
GNAS NM_000516.4 ?/. - c.-37241C>G VUS r.(?) p.(=) - - -
GNAS NM_001077488.2 ?/. - c.-37241C>G VUS r.(?) p.(=) - - -
GNAS NM_001077490.1 ?/. - c.1034C>G VUS r.(?) p.(Pro345Arg) - - -
GNAS NM_016592.2 ?/. - c.*42+13600C>G VUS r.(=) p.(=) - - -
GNAS NM_080425.2 ?/. - c.1221C>G VUS r.(?) p.(=) - - -