Genomic variant #0000570057

Chromosome 20
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.57429094C>T
DNA change (hg38) g.58854039C>T
Published as GNAS(NM_001077490.1):c.587C>T (p.(Ser196Leu))
ISCN -
DB-ID GNAS_000414
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)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
GNAS NM_000516.4 -?/. - c.-37688C>T r.(?) p.(=) - - -
GNAS NM_001077488.2 -?/. - c.-37688C>T r.(?) p.(=) - - -
GNAS NM_001077490.1 -?/. - c.587C>T r.(?) p.(Ser196Leu) - - -
GNAS NM_016592.2 -?/. - c.*42+13153C>T r.(=) p.(=) - - -
GNAS NM_080425.2 -?/. - c.774C>T r.(?) p.(Val258=) - - -