ClinVar

NM_005629.4(SLC6A8):c.1284C>T (p.Gly428=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153694159 (on Assembly GRCh38)
• ChrX: 152959614 (on Assembly GRCh37)

Preferred name:

NM_005629.4(SLC6A8):c.1284C>T (p.Gly428=)

HGVS:

• NC_000023.11:g.153694159C>T
• NG_012016.2:g.10863C>T
• NM_001142805.2:c.1254C>T
• NM_001142806.1:c.939C>T
• NM_005629.4:c.1284C>TMANE SELECT
• NP_001136277.1:p.Gly418=
• NP_001136278.1:p.Gly313=
• NP_005620.1:p.Gly428=
• NC_000023.10:g.152959614C>T
• NG_012016.1:g.10863C>T
• NM_005629.3:c.1284C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs781788160

NCBI 1000 Genomes Browser:

rs781788160

Molecular consequence:

• NM_001142805.2:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142806.1:c.939C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005629.4:c.1284C>T - synonymous variant - [Sequence Ontology: SO:0001819]