ClinVar

NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 243271035 (on Assembly GRCh38)
• Chr1: 243434337 (on Assembly GRCh37)

Preferred name:

NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu)

HGVS:

• NC_000001.11:g.243271035C>T
• NG_027811.1:g.20031C>T
• NM_001350246.2:c.-835C>T
• NM_001350247.2:c.-723C>T
• NM_001350248.2:c.278C>T
• NM_001350249.2:c.-17C>T
• NM_001350251.2:c.-1096C>T
• NM_006642.5:c.278C>TMANE SELECT
• NP_001337177.1:p.Pro93Leu
• NP_006633.1:p.Pro93Leu
• NC_000001.10:g.243434337C>T
• NM_006642.3:c.278C>T

This HGVS expression did not pass validation

Protein change:

P93L

Links:

dbSNP: rs140413256

Molecular consequence:

• NM_001350246.2:c.-835C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001350247.2:c.-723C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001350249.2:c.-17C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001350251.2:c.-1096C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001350248.2:c.278C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006642.5:c.278C>T - missense variant - [Sequence Ontology: SO:0001583]