ClinVar

NM_003042.4(SLC6A1):c.1352A>G (p.Asp451Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 11031205 (on Assembly GRCh38)
• Chr3: 11072891 (on Assembly GRCh37)

Preferred name:

NM_003042.4(SLC6A1):c.1352A>G (p.Asp451Gly)

HGVS:

• NC_000003.12:g.11031205A>G
• NG_053003.1:g.43477A>G
• NM_001348250.2:c.1352A>G
• NM_001348251.2:c.992A>G
• NM_001348252.2:c.818A>G
• NM_001348253.2:c.818A>G
• NM_003042.4:c.1352A>GMANE SELECT
• NP_001335179.1:p.Asp451Gly
• NP_001335180.1:p.Asp331Gly
• NP_001335181.1:p.Asp273Gly
• NP_001335182.1:p.Asp273Gly
• NP_003033.3:p.Asp451Gly
• NC_000003.11:g.11072891A>G

This HGVS expression did not pass validation

Protein change:

D273G

Links:

dbSNP: rs869312680

NCBI 1000 Genomes Browser:

rs869312680

Molecular consequence:

• NM_001348250.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348251.2:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348252.2:c.818A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348253.2:c.818A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003042.4:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]