ClinVar

NM_001379110.1(SLC9A6):c.-57+27T>A

Genes:

LOC130068746:ATAC-STARR-seq lymphoblastoid silent region 21025 [Gene]
SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.3

Genomic location:

• ChrX: 135985504 (on Assembly GRCh38)
• ChrX: 135067663 (on Assembly GRCh37)

Preferred name:

NM_001379110.1(SLC9A6):c.-57+27T>A

HGVS:

• NC_000023.11:g.135985504T>A
• NG_017160.1:g.5078T>A
• NM_001042537.2:c.2T>A
• NM_001177651.2:c.-57+27T>A
• NM_001330652.2:c.-57+32T>A
• NM_001379110.1:c.-57+27T>AMANE SELECT
• NM_006359.3:c.2T>A
• NP_001036002.1:p.Met1Lys
• NP_006350.1:p.Met1Lys
• NC_000023.10:g.135067663T>A
• NM_006359.2:c.2T>A

This HGVS expression did not pass validation

Protein change:

M1K

Links:

dbSNP: rs1006154022

NCBI 1000 Genomes Browser:

rs1006154022

Molecular consequence:

• NM_001042537.2:c.2T>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_006359.3:c.2T>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001177651.2:c.-57+27T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330652.2:c.-57+32T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379110.1:c.-57+27T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042537.2:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006359.3:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]