ClinVar

NM_031448.6(C19orf12):c.200G>A (p.Ser67Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q12

Genomic location:

• Chr19: 29702938 (on Assembly GRCh38)
• Chr19: 30193845 (on Assembly GRCh37)

Preferred name:

NM_031448.6(C19orf12):c.200G>A (p.Ser67Asn)

HGVS:

• NC_000019.10:g.29702938C>T
• NG_031970.2:g.17852G>A
• NM_001031726.4:c.200G>A
• NM_001256046.3:c.200G>A
• NM_001256047.2:c.200G>A
• NM_001282929.1:c.8G>A
• NM_001282930.3:c.8G>A
• NM_001282931.3:c.8G>A
• NM_031448.6:c.200G>AMANE SELECT
• NP_001026896.3:p.Ser67Asn
• NP_001242975.1:p.Ser67Asn
• NP_001242976.1:p.Ser67Asn
• NP_001269858.1:p.Ser3Asn
• NP_001269859.1:p.Ser3Asn
• NP_001269860.1:p.Ser3Asn
• NP_113636.2:p.Ser67Asn
• NC_000019.9:g.30193845C>T
• NR_045690.1:n.190G>A
• NR_045691.1:n.461G>A
• NR_045692.1:n.752G>A

This HGVS expression did not pass validation

Protein change:

S3N

Molecular consequence:

• NM_001031726.4:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256046.3:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256047.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282929.1:c.8G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282930.3:c.8G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282931.3:c.8G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_031448.6:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1