ClinVar

NM_080546.5(SLC44A1):c.498G>A (p.Ala166=)

Gene:

SLC44A1:solute carrier family 44 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.1

Genomic location:

• Chr9: 105348449 (on Assembly GRCh38)
• Chr9: 108110730 (on Assembly GRCh37)

Preferred name:

NM_080546.5(SLC44A1):c.498G>A (p.Ala166=)

HGVS:

• NC_000009.12:g.105348449G>A
• NM_001286730.2:c.498G>A
• NM_001330731.2:c.498G>A
• NM_080546.5:c.498G>AMANE SELECT
• NP_001273659.1:p.Ala166=
• NP_001317660.1:p.Ala166=
• NP_536856.2:p.Ala166=
• NC_000009.11:g.108110730G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001286730.2:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330731.2:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080546.5:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1