ClinVar

NM_016592.5(GNAS):c.441G>A (p.Pro147=)

Genes:

GNAS-AS1:GNAS antisense RNA 1 [Gene - OMIM - HGNC]
GNAS:GNAS complex locus [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58840547 (on Assembly GRCh38)
• Chr20: 57415602 (on Assembly GRCh37)

Preferred name:

NM_016592.5(GNAS):c.441G>A (p.Pro147=)

HGVS:

• NC_000020.11:g.58840547G>A
• NG_016194.2:g.5808G>A
• NG_021433.1:g.15357C>T
• NM_001410912.1:c.-297G>A
• NM_016592.5:c.441G>A
• NP_057676.1:p.Pro147=
• LRG_1051:g.15357C>T
• NC_000020.10:g.57415602G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs77400319

NCBI 1000 Genomes Browser:

rs77400319

Molecular consequence:

• NM_001410912.1:c.-297G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_016592.5:c.441G>A - synonymous variant - [Sequence Ontology: SO:0001819]