ClinVar

NM_020988.3(GNAO1):c.606C>T (p.Val202=)

Gene:

GNAO1:G protein subunit alpha o1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

• Chr16: 56336743 (on Assembly GRCh38)
• Chr16: 56370655 (on Assembly GRCh37)

Preferred name:

NM_020988.3(GNAO1):c.606C>T (p.Val202=)

HGVS:

• NC_000016.10:g.56336743C>T
• NG_042800.1:g.150405C>T
• NM_020988.3:c.606C>TMANE SELECT
• NM_138736.3:c.606C>T
• NP_066268.1:p.Val202=
• NP_620073.2:p.Val202=
• NC_000016.9:g.56370655C>T
• NM_020988.2:c.606C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs150641952

NCBI 1000 Genomes Browser:

rs150641952

Molecular consequence:

• NM_020988.3:c.606C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_138736.3:c.606C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2