ClinVar

NM_006642.5(SDCCAG8):c.1474-6C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 243378715 (on Assembly GRCh38)
• Chr1: 243542017 (on Assembly GRCh37)

Preferred name:

NM_006642.5(SDCCAG8):c.1474-6C>T

HGVS:

• NC_000001.11:g.243378715C>T
• NG_027811.1:g.127711C>T
• NM_001350246.2:c.571-6C>T
• NM_001350247.2:c.571-6C>T
• NM_001350248.2:c.1570-6C>T
• NM_001350249.2:c.1180-6C>T
• NM_001350251.2:c.571-6C>T
• NM_006642.5:c.1474-6C>TMANE SELECT
• NC_000001.10:g.243542017C>T
• NM_006642.3:c.1474-6C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs376414138

NCBI 1000 Genomes Browser:

rs376414138

Molecular consequence:

• NM_001350246.2:c.571-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350247.2:c.571-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350248.2:c.1570-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350249.2:c.1180-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350251.2:c.571-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006642.5:c.1474-6C>T - intron variant - [Sequence Ontology: SO:0001627]