ClinVar

NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met)

Gene:

SLC6A1:solute carrier family 6 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 11034534 (on Assembly GRCh38)
• Chr3: 11076220 (on Assembly GRCh37)

Preferred name:

NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met)

HGVS:

• NC_000003.12:g.11034534G>A
• NG_053003.1:g.46806G>A
• NM_001348250.2:c.1531G>A
• NM_001348251.2:c.1171G>A
• NM_001348252.2:c.997G>A
• NM_001348253.2:c.997G>A
• NM_003042.4:c.1531G>AMANE SELECT
• NP_001335179.1:p.Val511Met
• NP_001335180.1:p.Val391Met
• NP_001335181.1:p.Val333Met
• NP_001335182.1:p.Val333Met
• NP_003033.3:p.Val511Met
• NC_000003.11:g.11076220G>A
• NM_003042.3:c.1531G>A

This HGVS expression did not pass validation

Protein change:

V333M

Links:

dbSNP: rs1064794981

NCBI 1000 Genomes Browser:

rs1064794981

Molecular consequence:

• NM_001348250.2:c.1531G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348251.2:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348252.2:c.997G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348253.2:c.997G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003042.4:c.1531G>A - missense variant - [Sequence Ontology: SO:0001583]