ClinVar

NM_001379110.1(SLC9A6):c.66G>A (p.Leu22=)

Genes:

LOC130068747:ATAC-STARR-seq lymphoblastoid active region 29988 [Gene]
SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.3

Genomic location:

• ChrX: 135985724 (on Assembly GRCh38)
• ChrX: 135067883 (on Assembly GRCh37)

Preferred name:

NM_001379110.1(SLC9A6):c.66G>A (p.Leu22=)

HGVS:

• NC_000023.11:g.135985724G>A
• NG_017160.1:g.5298G>A
• NM_001042537.2:c.222G>A
• NM_001177651.2:c.66G>A
• NM_001330652.2:c.66G>A
• NM_001379110.1:c.66G>AMANE SELECT
• NM_006359.3:c.222G>A
• NP_001036002.1:p.Leu74=
• NP_001171122.1:p.Leu22=
• NP_001317581.1:p.Leu22=
• NP_001366039.1:p.Leu22=
• NP_006350.1:p.Leu74=
• NC_000023.10:g.135067883G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1230295623

NCBI 1000 Genomes Browser:

rs1230295623

Molecular consequence:

• NM_001042537.2:c.222G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001177651.2:c.66G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330652.2:c.66G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379110.1:c.66G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006359.3:c.222G>A - synonymous variant - [Sequence Ontology: SO:0001819]