ClinVar

NM_152363.6(ANKLE1):c.1750C>T (p.Arg584Trp)

Gene:

ANKLE1:ankyrin repeat and LEM domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

• Chr19: 17286454 (on Assembly GRCh38)
• Chr19: 17397263 (on Assembly GRCh37)

Preferred name:

NM_152363.6(ANKLE1):c.1750C>T (p.Arg584Trp)

HGVS:

• NC_000019.10:g.17286454C>T
• NM_001278443.2:c.1639C>T
• NM_001278444.2:c.1533C>T
• NM_001278445.2:c.1630C>T
• NM_152363.6:c.1750C>TMANE SELECT
• NP_001265372.2:p.Arg547Trp
• NP_001265373.2:p.Ala511=
• NP_001265374.2:p.Arg544Trp
• NP_689576.6:p.Arg584Trp
• NC_000019.9:g.17397263C>T
• NM_152363.4:c.1750C>T
• NR_103530.2:n.1514C>T

This HGVS expression did not pass validation

Protein change:

R544W

Molecular consequence:

• NM_001278443.2:c.1639C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278445.2:c.1630C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152363.6:c.1750C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_103530.2:n.1514C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001278444.2:c.1533C>T - synonymous variant - [Sequence Ontology: SO:0001819]