Genomic variant #0000570044

Chromosome 20
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.57415753G>A
DNA change (hg38) -
Published as GNAS(NM_016592.2):c.592G>A (p.(Asp198Asn))
ISCN -
DB-ID GNAS_000405
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) 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.-51029G>A likely benign r.(?) p.(=) - - -
GNAS NM_001077488.2 -?/. - c.-51029G>A likely benign r.(?) p.(=) - - -
GNAS NM_001077490.1 -?/. - c.-12755G>A likely benign r.(?) p.(=) - - -
GNAS NM_016592.2 -?/. - c.592G>A likely benign r.(?) p.(Asp198Asn) - - -
GNAS NM_080425.2 -?/. - c.-12568G>A likely benign r.(?) p.(=) - - -