ClinVar

NM_001379110.1(SLC9A6):c.448-1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.3

Genomic location:

• ChrX: 135998481 (on Assembly GRCh38)
• ChrX: 135080640 (on Assembly GRCh37)

Preferred name:

NM_001379110.1(SLC9A6):c.448-1G>A

HGVS:

• NC_000023.11:g.135998481G>A
• NG_017160.1:g.18055G>A
• NG_017160.2:g.29646G>A
• NM_001042537.2:c.604-1G>A
• NM_001177651.2:c.448-1G>A
• NM_001330652.2:c.352-1G>A
• NM_001379110.1:c.448-1G>AMANE SELECT
• NM_001400909.1:c.448-1G>A
• NM_001400910.1:c.448-1G>A
• NM_001400911.1:c.448-1G>A
• NM_001400912.1:c.448-1G>A
• NM_001400913.1:c.352-1G>A
• NM_006359.3:c.508-1G>A
• NC_000023.10:g.135080640G>A
• NM_001042537.1(SLC9A6):c.604-1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs797044508

NCBI 1000 Genomes Browser:

rs797044508

Molecular consequence:

• NM_001042537.2:c.604-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001177651.2:c.448-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001330652.2:c.352-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001379110.1:c.448-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001400909.1:c.448-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001400910.1:c.448-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001400911.1:c.448-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001400912.1:c.448-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001400913.1:c.352-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_006359.3:c.508-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

5