ClinVar

NM_013275.6(ANKRD11):c.5609C>T (p.Ala1870Val)

Gene:

ANKRD11:ankyrin repeat domain containing 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89280933 (on Assembly GRCh38)
• Chr16: 89347341 (on Assembly GRCh37)

Preferred name:

NM_013275.6(ANKRD11):c.5609C>T (p.Ala1870Val)

HGVS:

• NC_000016.10:g.89280933G>A
• NG_032003.2:g.214629C>T
• NM_001256182.2:c.5609C>T
• NM_001256183.2:c.5609C>T
• NM_013275.6:c.5609C>TMANE SELECT
• NP_001243111.1:p.Ala1870Val
• NP_001243112.1:p.Ala1870Val
• NP_037407.4:p.Ala1870Val
• NC_000016.9:g.89347341G>A
• NG_032003.1:g.214629C>T
• NM_001256182.1:c.5609C>T
• NM_013275.4:c.5609C>T

This HGVS expression did not pass validation

Protein change:

A1870V

Links:

dbSNP: rs864309571

NCBI 1000 Genomes Browser:

rs864309571

Molecular consequence:

• NM_001256182.2:c.5609C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256183.2:c.5609C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_013275.6:c.5609C>T - missense variant - [Sequence Ontology: SO:0001583]