Genomic variant #0000328538

Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.57430000C>A
DNA change (hg38) -
Published as GNAS(NM_001077490.1):c.1493C>A (p.(Ala498Asp))
ISCN -
DB-ID GNAS_000381
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Leiden
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.-36782C>A VUS r.(?) p.(=) - - -
GNAS NM_001077488.2 ?/. - c.-36782C>A VUS r.(?) p.(=) - - -
GNAS NM_001077490.1 ?/. - c.1493C>A VUS r.(?) p.(Ala498Asp) - - -
GNAS NM_016592.2 ?/. - c.*42+14059C>A VUS r.(=) p.(=) - - -
GNAS NM_080425.2 ?/. - c.1680C>A VUS r.(?) p.(=) - - -