ClinVar

NM_031448.6(C19orf12):c.165G>A (p.Gly55=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q12

Genomic location:

• Chr19: 29702973 (on Assembly GRCh38)
• Chr19: 30193880 (on Assembly GRCh37)

Preferred name:

NM_031448.6(C19orf12):c.165G>A (p.Gly55=)

HGVS:

• NC_000019.10:g.29702973C>T
• NG_031970.2:g.17817G>A
• NM_001031726.4:c.165G>A
• NM_001256046.3:c.165G>A
• NM_001256047.2:c.165G>A
• NM_001282929.1:c.-28G>A
• NM_001282930.3:c.-28G>A
• NM_001282931.3:c.-28G>A
• NM_031448.6:c.165G>AMANE SELECT
• NP_001026896.2:p.Gly66=
• NP_001026896.3:p.Gly55=
• NP_001242975.1:p.Gly55=
• NP_001242976.1:p.Gly55=
• NP_113636.2:p.Gly55=
• NC_000019.9:g.30193880C>T
• NM_001031726.3:c.198G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs201194487

NCBI 1000 Genomes Browser:

rs201194487

Molecular consequence:

• NM_001282929.1:c.-28G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001282930.3:c.-28G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001282931.3:c.-28G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001031726.4:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256046.3:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256047.2:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_031448.6:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]