ClinVar

NM_031448.6(C19orf12):c.160+8C>T

Gene:

C19orf12:chromosome 19 open reading frame 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q12

Genomic location:

• Chr19: 29708246 (on Assembly GRCh38)
• Chr19: 30199153 (on Assembly GRCh37)

Preferred name:

NM_031448.6(C19orf12):c.160+8C>T

HGVS:

• NC_000019.10:g.29708246G>A
• NG_031970.2:g.12544C>T
• NM_001031726.4:c.160+8C>T
• NM_001256046.3:c.160+8C>T
• NM_001256047.2:c.160+8C>T
• NM_001282929.1:c.-32-5269C>T
• NM_001282930.3:c.-32-5269C>T
• NM_001282931.3:c.-154+8C>T
• NM_031448.6:c.160+8C>TMANE SELECT
• NC_000019.9:g.30199153G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs186360260

NCBI 1000 Genomes Browser:

rs186360260

Molecular consequence:

• NM_001031726.4:c.160+8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256046.3:c.160+8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256047.2:c.160+8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282929.1:c.-32-5269C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282930.3:c.-32-5269C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282931.3:c.-154+8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_031448.6:c.160+8C>T - intron variant - [Sequence Ontology: SO:0001627]