ClinVar

NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)

Gene:

SLC10A1:solute carrier family 10 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.1

Genomic location:

• Chr14: 69778521 (on Assembly GRCh38)
• Chr14: 70245238 (on Assembly GRCh37)

Preferred name:

NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)

Other names:

p.Arg252His

HGVS:

• NC_000014.9:g.69778521C>T
• NM_003049.4:c.755G>AMANE SELECT
• NP_003040.1:p.Arg252His
• NC_000014.8:g.70245238C>T
• NM_003049.3:c.755G>A

This HGVS expression did not pass validation

Protein change:

R252H; ARG252HIS

Links:

OMIM: 182396.0001; dbSNP: rs147226818

NCBI 1000 Genomes Browser:

rs147226818

Molecular consequence:

• NM_003049.4:c.755G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1