ClinVar

NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153688600 (on Assembly GRCh38)
• ChrX: 152954055 (on Assembly GRCh37)

Preferred name:

NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val)

Other names:

NM_005629.4(SLC6A8):c.26G>T; p.Gly9Val

HGVS:

• NC_000023.11:g.153688600G>T
• NG_012016.2:g.5304G>T
• NM_001142805.2:c.26G>T
• NM_005629.4:c.26G>TMANE SELECT
• NP_001136277.1:p.Gly9Val
• NP_005620.1:p.Gly9Val
• NC_000023.10:g.152954055G>T
• NG_012016.1:g.5304G>T
• NM_005629.3:c.26G>T

This HGVS expression did not pass validation

Protein change:

G9V

Links:

dbSNP: rs1198790754

NCBI 1000 Genomes Browser:

rs1198790754

Molecular consequence:

• NM_001142805.2:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005629.4:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]