ClinVar

NM_000338.3(SLC12A1):c.386C>T (p.Pro129Leu)

Genes:

CTXN2-AS1:CTXN2 antisense RNA 1 [Gene - HGNC]
SLC12A1:solute carrier family 12 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48208105 (on Assembly GRCh38)
• Chr15: 48500302 (on Assembly GRCh37)

Preferred name:

NM_000338.3(SLC12A1):c.386C>T (p.Pro129Leu)

HGVS:

• NC_000015.10:g.48208105C>T
• NG_021301.1:g.6805C>T
• NM_000338.3:c.386C>TMANE SELECT
• NM_001184832.2:c.386C>T
• NP_000329.2:p.Pro129Leu
• NP_000329.2:p.Pro129Leu
• NP_001171761.1:p.Pro129Leu
• NC_000015.9:g.48500302C>T
• NM_000338.2:c.386C>T

This HGVS expression did not pass validation

Protein change:

P129L

Links:

dbSNP: rs387907468

NCBI 1000 Genomes Browser:

rs387907468

Molecular consequence:

• NM_000338.3:c.386C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184832.2:c.386C>T - missense variant - [Sequence Ontology: SO:0001583]