Genomic variant #0000570040

Chromosome 20
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.57415455C>T
DNA change (hg38) -
Published as GNAS(NM_016592.4):c.294C>T (p.P98=)
ISCN -
DB-ID GNAS_000401
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) 0.05182 View details
Owner VKGL-NL
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.-51327C>T benign r.(?) p.(=) - - -
GNAS NM_001077488.2 -/. - c.-51327C>T benign r.(?) p.(=) - - -
GNAS NM_001077490.1 -/. - c.-13053C>T benign r.(?) p.(=) - - -
GNAS NM_016592.2 -/. - c.294C>T benign r.(?) p.(=) - - -
GNAS NM_080425.2 -/. - c.-12866C>T benign r.(?) p.(=) - - -