ClinVar

NM_001177316.2(SLC34A3):c.1610G>A (p.Arg537His)

Gene:

SLC34A3:solute carrier family 34 member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 137236226 (on Assembly GRCh38)
• Chr9: 140130678 (on Assembly GRCh37)

Preferred name:

NM_001177316.2(SLC34A3):c.1610G>A (p.Arg537His)

HGVS:

• NC_000009.12:g.137236226G>A
• NG_017008.2:g.10326G>A
• NM_001177316.2:c.1610G>AMANE SELECT
• NM_001177317.2:c.1610G>A
• NM_080877.3:c.1610G>A
• NP_001170787.2:p.Arg537His
• NP_001170788.2:p.Arg537His
• NP_543153.1:p.Arg537His
• NP_543153.2:p.Arg537His
• NC_000009.11:g.140130678G>A
• NM_080877.2:c.1610G>A

This HGVS expression did not pass validation

Protein change:

R537H

Links:

dbSNP: rs146757110

NCBI 1000 Genomes Browser:

rs146757110

Molecular consequence:

• NM_001177316.2:c.1610G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177317.2:c.1610G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_080877.3:c.1610G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1