ClinVar

NM_003060.4(SLC22A5):c.217G>C (p.Asp73His)

Gene:

SLC22A5:solute carrier family 22 member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

• Chr5: 132370189 (on Assembly GRCh38)
• Chr5: 131705881 (on Assembly GRCh37)

Preferred name:

NM_003060.4(SLC22A5):c.217G>C (p.Asp73His)

HGVS:

• NC_000005.10:g.132370189G>C
• NG_008982.2:g.5486G>C
• NM_001308122.2:c.217G>C
• NM_003060.4:c.217G>CMANE SELECT
• NP_001295051.1:p.Asp73His
• NP_003051.1:p.Asp73His
• NC_000005.9:g.131705881G>C
• NC_000005.9:g.131705881G>C
• NM_003060.3:c.217G>C

This HGVS expression did not pass validation

Protein change:

D73H

Links:

dbSNP: rs778137386

NCBI 1000 Genomes Browser:

rs778137386

Molecular consequence:

• NM_001308122.2:c.217G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003060.4:c.217G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1