ClinVar

NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)

Gene:

SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153693925 (on Assembly GRCh38)
• ChrX: 152959380 (on Assembly GRCh37)

Preferred name:

NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)

Other names:

NM_005629.4(SLC6A8):c.1162G>A; p.Ala388Thr

HGVS:

• NC_000023.11:g.153693925G>A
• NG_012016.2:g.10629G>A
• NM_001142805.2:c.1132G>A
• NM_001142806.1:c.817G>A
• NM_005629.4:c.1162G>AMANE SELECT
• NP_001136277.1:p.Ala378Thr
• NP_001136278.1:p.Ala273Thr
• NP_005620.1:p.Ala388Thr
• NC_000023.10:g.152959380G>A
• NG_012016.1:g.10629G>A
• NM_005629.3:c.1162G>A

This HGVS expression did not pass validation

Protein change:

A273T

Links:

dbSNP: rs374163604

NCBI 1000 Genomes Browser:

rs374163604

Molecular consequence:

• NM_001142805.2:c.1132G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142806.1:c.817G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005629.4:c.1162G>A - missense variant - [Sequence Ontology: SO:0001583]