ClinVar

NM_001379110.1(SLC9A6):c.57C>T (p.Ser19=)

Gene:

SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.3

Genomic location:

• ChrX: 135985715 (on Assembly GRCh38)
• ChrX: 135067874 (on Assembly GRCh37)

Preferred name:

NM_001379110.1(SLC9A6):c.57C>T (p.Ser19=)

HGVS:

• NC_000023.11:g.135985715C>T
• NG_017160.1:g.5289C>T
• NM_001042537.2:c.213C>T
• NM_001177651.2:c.57C>T
• NM_001330652.2:c.57C>T
• NM_001379110.1:c.57C>TMANE SELECT
• NM_006359.3:c.213C>T
• NP_001036002.1:p.Ser71=
• NP_001171122.1:p.Ser19=
• NP_001317581.1:p.Ser19=
• NP_001366039.1:p.Ser19=
• NP_006350.1:p.Ser71=
• NC_000023.10:g.135067874C>T
• NM_006359.2:c.213C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs781963863

NCBI 1000 Genomes Browser:

rs781963863

Molecular consequence:

• NM_001042537.2:c.213C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001177651.2:c.57C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330652.2:c.57C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379110.1:c.57C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006359.3:c.213C>T - synonymous variant - [Sequence Ontology: SO:0001819]