ClinVar

NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 243341090 (on Assembly GRCh38)
• Chr1: 243504392 (on Assembly GRCh37)

Preferred name:

NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe)

HGVS:

• NC_000001.11:g.243341090G>T
• NG_027811.1:g.90086G>T
• NM_001350246.2:c.370G>T
• NM_001350247.2:c.370G>T
• NM_001350248.2:c.1369G>T
• NM_001350249.2:c.979G>T
• NM_001350251.2:c.370G>T
• NM_006642.3:c.1273G>T
• NM_006642.5:c.1273G>TMANE SELECT
• NP_001337175.1:p.Val124Phe
• NP_001337176.1:p.Val124Phe
• NP_001337177.1:p.Val457Phe
• NP_001337178.1:p.Val327Phe
• NP_001337180.1:p.Val124Phe
• NP_006633.1:p.Val425Phe
• NC_000001.10:g.243504392G>T

This HGVS expression did not pass validation

Protein change:

V124F

Links:

dbSNP: rs370072966

NCBI 1000 Genomes Browser:

rs370072966

Molecular consequence:

• NM_001350246.2:c.370G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350247.2:c.370G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350248.2:c.1369G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350249.2:c.979G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350251.2:c.370G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006642.5:c.1273G>T - missense variant - [Sequence Ontology: SO:0001583]