ClinVar

NM_005629.4(SLC6A8):c.114G>A (p.Val38=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153688688 (on Assembly GRCh38)
• ChrX: 152954143 (on Assembly GRCh37)

Preferred name:

NM_005629.4(SLC6A8):c.114G>A (p.Val38=)

HGVS:

• NC_000023.11:g.153688688G>A
• NG_012016.2:g.5392G>A
• NM_001142805.2:c.114G>A
• NM_005629.4:c.114G>AMANE SELECT
• NP_001136277.1:p.Val38=
• NP_005620.1:p.Val38=
• NC_000023.10:g.152954143G>A
• NM_005629.3:c.114G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2148358489

NCBI 1000 Genomes Browser:

rs2148358489

Molecular consequence:

• NM_001142805.2:c.114G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005629.4:c.114G>A - synonymous variant - [Sequence Ontology: SO:0001819]