ClinVar

NM_001099646.3(SLC47A2):c.873G>T (p.Gln291His)

Gene:

SLC47A2:solute carrier family 47 member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 19705472 (on Assembly GRCh38)
• Chr17: 19608785 (on Assembly GRCh37)

Preferred name:

NM_001099646.3(SLC47A2):c.873G>T (p.Gln291His)

HGVS:

• NC_000017.11:g.19705472C>A
• NG_052805.1:g.18508G>T
• NM_001099646.3:c.873G>TMANE SELECT
• NM_001256663.3:c.873G>T
• NM_152908.5:c.981G>T
• NP_001093116.1:p.Gln291His
• NP_001243592.1:p.Gln291His
• NP_690872.2:p.Gln327His
• NC_000017.10:g.19608785C>A
• NM_152908.3:c.981G>T
• NR_135624.2:n.1619G>T
• NR_135625.3:n.1056G>T

This HGVS expression did not pass validation

Protein change:

Q291H

Molecular consequence:

• NM_001099646.3:c.873G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256663.3:c.873G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152908.5:c.981G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_135624.2:n.1619G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_135625.3:n.1056G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]