ClinVar

NM_000939.4(POMC):c.583G>A (p.Ala195Thr)

Gene:

POMC:proopiomelanocortin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 25161302 (on Assembly GRCh38)
• Chr2: 25384171 (on Assembly GRCh37)

Preferred name:

NM_000939.4(POMC):c.583G>A (p.Ala195Thr)

HGVS:

• NC_000002.12:g.25161302C>T
• NG_008997.1:g.12389G>A
• NM_000939.4:c.583G>AMANE SELECT
• NM_001035256.3:c.583G>A
• NM_001319204.2:c.583G>A
• NM_001319205.2:c.583G>A
• NP_000930.1:p.Ala195Thr
• NP_001030333.1:p.Ala195Thr
• NP_001030333.1:p.Ala195Thr
• NP_001306133.1:p.Ala195Thr
• NP_001306134.1:p.Ala195Thr
• NC_000002.11:g.25384171C>T
• NM_000939.3:c.583G>A
• NM_001035256.1:c.583G>A
• NM_001035256.2:c.583G>A

This HGVS expression did not pass validation

Protein change:

A195T

Links:

dbSNP: rs141309351

NCBI 1000 Genomes Browser:

rs141309351

Molecular consequence:

• NM_000939.4:c.583G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001035256.3:c.583G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319204.2:c.583G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319205.2:c.583G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3