ClinVar

NM_031448.6(C19orf12):c.221C>G (p.Pro74Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q12

Genomic location:

• Chr19: 29702917 (on Assembly GRCh38)
• Chr19: 30193824 (on Assembly GRCh37)

Preferred name:

NM_031448.6(C19orf12):c.221C>G (p.Pro74Arg)

HGVS:

• NC_000019.10:g.29702917G>C
• NG_031970.2:g.17873C>G
• NM_001031726.4:c.221C>G
• NM_001256046.3:c.221C>G
• NM_001256047.2:c.221C>G
• NM_001282929.1:c.29C>G
• NM_001282930.3:c.29C>G
• NM_001282931.3:c.29C>G
• NM_031448.6:c.221C>GMANE SELECT
• NP_001026896.3:p.Pro74Arg
• NP_001242975.1:p.Pro74Arg
• NP_001242976.1:p.Pro74Arg
• NP_001269858.1:p.Pro10Arg
• NP_001269859.1:p.Pro10Arg
• NP_001269860.1:p.Pro10Arg
• NP_113636.2:p.Pro74Arg
• NC_000019.9:g.30193824G>C

This HGVS expression did not pass validation

Protein change:

P10R

Links:

dbSNP: rs747900430

NCBI 1000 Genomes Browser:

rs747900430

Molecular consequence:

• NM_001031726.4:c.221C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256046.3:c.221C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256047.2:c.221C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282929.1:c.29C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282930.3:c.29C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282931.3:c.29C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_031448.6:c.221C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1