ClinVar

NM_006642.5(SDCCAG8):c.2028G>A (p.Gln676=)

Genes:

AKT3:AKT serine/threonine kinase 3 [Gene - OMIM - HGNC]
SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 243489056 (on Assembly GRCh38)
• Chr1: 243652358 (on Assembly GRCh37)

Preferred name:

NM_006642.5(SDCCAG8):c.2028G>A (p.Gln676=)

HGVS:

• NC_000001.11:g.243489056G>A
• NG_027811.1:g.238052G>A
• NG_029764.2:g.367024C>T
• NM_001350246.2:c.1125G>A
• NM_001350247.2:c.1125G>A
• NM_001350248.2:c.2124G>A
• NM_001350249.2:c.1734G>A
• NM_001350251.2:c.1125G>A
• NM_006642.5:c.2028G>AMANE SELECT
• NM_181690.2:c.*7-606C>T
• NP_001337175.1:p.Gln375=
• NP_001337176.1:p.Gln375=
• NP_001337177.1:p.Gln708=
• NP_001337178.1:p.Gln578=
• NP_001337180.1:p.Gln375=
• NP_006633.1:p.Gln676=
• LRG_1396:g.367024C>T
• NC_000001.10:g.243652358G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_181690.2:c.*7-606C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350246.2:c.1125G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350247.2:c.1125G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350248.2:c.2124G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350249.2:c.1734G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350251.2:c.1125G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006642.5:c.2028G>A - synonymous variant - [Sequence Ontology: SO:0001819]