ClinVar

NM_006642.5(SDCCAG8):c.1985G>A (p.Arg662Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 243426558 (on Assembly GRCh38)
• Chr1: 243589860 (on Assembly GRCh37)

Preferred name:

NM_006642.5(SDCCAG8):c.1985G>A (p.Arg662Lys)

HGVS:

• NC_000001.11:g.243426558G>A
• NG_027811.1:g.175554G>A
• NM_001350246.2:c.1082G>A
• NM_001350247.2:c.1082G>A
• NM_001350248.2:c.2081G>A
• NM_001350249.2:c.1691G>A
• NM_001350251.2:c.1082G>A
• NM_006642.5:c.1985G>AMANE SELECT
• NP_001337175.1:p.Arg361Lys
• NP_001337176.1:p.Arg361Lys
• NP_001337177.1:p.Arg694Lys
• NP_001337178.1:p.Arg564Lys
• NP_001337180.1:p.Arg361Lys
• NP_006633.1:p.Arg662Lys
• NC_000001.10:g.243589860G>A
• NM_006642.3:c.1985G>A

This HGVS expression did not pass validation

Protein change:

R361K

Links:

dbSNP: rs2081354187

Molecular consequence:

• NM_001350246.2:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350247.2:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350248.2:c.2081G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350249.2:c.1691G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350251.2:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006642.5:c.1985G>A - missense variant - [Sequence Ontology: SO:0001583]