ClinVar

NM_006642.5(SDCCAG8):c.1527G>A (p.Gln509=)

Gene:

SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 243378774 (on Assembly GRCh38)
• Chr1: 243542076 (on Assembly GRCh37)

Preferred name:

NM_006642.5(SDCCAG8):c.1527G>A (p.Gln509=)

HGVS:

• NC_000001.11:g.243378774G>A
• NG_027811.1:g.127770G>A
• NM_001350246.2:c.624G>A
• NM_001350247.2:c.624G>A
• NM_001350248.2:c.1623G>A
• NM_001350249.2:c.1233G>A
• NM_001350251.2:c.624G>A
• NM_006642.5:c.1527G>AMANE SELECT
• NP_001337175.1:p.Gln208=
• NP_001337176.1:p.Gln208=
• NP_001337177.1:p.Gln541=
• NP_001337178.1:p.Gln411=
• NP_001337180.1:p.Gln208=
• NP_006633.1:p.Gln509=
• NC_000001.10:g.243542076G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2077756382

NCBI 1000 Genomes Browser:

rs2077756382

Molecular consequence:

• NM_001350246.2:c.624G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350247.2:c.624G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350248.2:c.1623G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350249.2:c.1233G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350251.2:c.624G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006642.5:c.1527G>A - synonymous variant - [Sequence Ontology: SO:0001819]