ClinVar

NM_001365088.1(SLC12A6):c.179T>G (p.Met60Arg)

Gene:

SLC12A6:solute carrier family 12 member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

• Chr15: 34336502 (on Assembly GRCh38)
• Chr15: 34628703 (on Assembly GRCh37)

Preferred name:

NM_001365088.1(SLC12A6):c.179T>G (p.Met60Arg)

HGVS:

• NC_000015.10:g.34336502A>C
• NG_007951.1:g.6563T>G
• NM_001042494.2:c.2T>G
• NM_001042495.2:c.2T>G
• NM_001042496.2:c.152T>G
• NM_001042497.2:c.179T>G
• NM_001365088.1:c.179T>GMANE SELECT
• NM_133647.2:c.179T>G
• NP_001035959.1:p.Met1Arg
• NP_001035960.1:p.Met1Arg
• NP_001035961.1:p.Met51Arg
• NP_001035962.1:p.Met60Arg
• NP_001352017.1:p.Met60Arg
• NP_598408.1:p.Met60Arg
• NP_598408.1:p.Met60Arg
• LRG_270t2:c.179T>G
• LRG_270:g.6563T>G
• LRG_270p2:p.Met60Arg
• NC_000015.9:g.34628703A>C
• NM_133647.1:c.179T>G

This HGVS expression did not pass validation

Protein change:

M1R

Links:

dbSNP: rs1555392885

NCBI 1000 Genomes Browser:

rs1555392885

Molecular consequence:

• NM_001042494.2:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001042495.2:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001042494.2:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042495.2:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042496.2:c.152T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042497.2:c.179T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365088.1:c.179T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_133647.2:c.179T>G - missense variant - [Sequence Ontology: SO:0001583]