ClinVar

NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q12

Genomic location:

• Chr19: 29702966 (on Assembly GRCh38)
• Chr19: 30193873 (on Assembly GRCh37)

Preferred name:

NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)

Other names:

C19ORF12, GLY69ARG

HGVS:

• NC_000019.10:g.29702966C>T
• NG_031970.2:g.17824G>A
• NM_001031726.4:c.172G>A
• NM_001256046.3:c.172G>A
• NM_001256047.2:c.172G>A
• NM_001282929.1:c.-21G>A
• NM_001282930.3:c.-21G>A
• NM_001282931.3:c.-21G>A
• NM_031448.6:c.172G>AMANE SELECT
• NP_001026896.2:p.Gly69Arg
• NP_001026896.3:p.Gly58Arg
• NP_001242975.1:p.Gly58Arg
• NP_001242976.1:p.Gly58Arg
• NP_113636.2:p.Gly58Arg
• NC_000019.9:g.30193873C>T
• NM_001031726.2:c.205G>A
• NM_001031726.3:c.205G>A
• Q9NSK7:p.Gly69Arg

This HGVS expression did not pass validation

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

G58R; GLY69ARG

Links:

UniProtKB: Q9NSK7#VAR_066620; OMIM: 614297.0003; dbSNP: rs515726205

NCBI 1000 Genomes Browser:

rs515726205

Molecular consequence:

• NM_001282929.1:c.-21G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001282930.3:c.-21G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001282931.3:c.-21G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001031726.4:c.172G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256046.3:c.172G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256047.2:c.172G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_031448.6:c.172G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Unknown function