ClinVar

NM_020208.4(SLC6A20):c.1447G>A (p.Val483Met)

Gene:

SLC6A20:solute carrier family 6 member 20 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 45762929 (on Assembly GRCh38)
• Chr3: 45804421 (on Assembly GRCh37)

Preferred name:

NM_020208.4(SLC6A20):c.1447G>A (p.Val483Met)

HGVS:

• NC_000003.12:g.45762929C>T
• NG_023204.1:g.38615G>A
• NM_001385683.1:c.1480G>A
• NM_020208.4:c.1447G>AMANE SELECT
• NM_022405.4:c.1336G>A
• NP_001372612.1:p.Val494Met
• NP_064593.1:p.Val483Met
• NP_071800.1:p.Val446Met
• NC_000003.11:g.45804421C>T
• NM_020208.3:c.1447G>A

This HGVS expression did not pass validation

Protein change:

V446M

Links:

dbSNP: rs146575685

NCBI 1000 Genomes Browser:

rs146575685

Molecular consequence:

• NM_001385683.1:c.1480G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020208.4:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022405.4:c.1336G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1