ClinVar

NM_005629.4(SLC6A8):c.1333A>T (p.Ile445Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153694208 (on Assembly GRCh38)
• ChrX: 152959663 (on Assembly GRCh37)

Preferred name:

NM_005629.4(SLC6A8):c.1333A>T (p.Ile445Phe)

HGVS:

• NC_000023.11:g.153694208A>T
• NG_012016.2:g.10912A>T
• NM_001142805.2:c.1303A>T
• NM_001142806.1:c.988A>T
• NM_005629.4:c.1333A>TMANE SELECT
• NP_001136277.1:p.Ile435Phe
• NP_001136278.1:p.Ile330Phe
• NP_005620.1:p.Ile445Phe
• NC_000023.10:g.152959663A>T
• NG_012016.1:g.10912A>T
• NM_005629.3:c.1333A>T

This HGVS expression did not pass validation

Protein change:

I330F

Links:

dbSNP: rs2091474639

NCBI 1000 Genomes Browser:

rs2091474639

Molecular consequence:

• NM_001142805.2:c.1303A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142806.1:c.988A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005629.4:c.1333A>T - missense variant - [Sequence Ontology: SO:0001583]