ClinVar

NM_207354.3(ANKRD13D):c.251G>T (p.Gly84Val)

Gene:

ANKRD13D:ankyrin repeat domain 13D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67290346 (on Assembly GRCh38)
• Chr11: 67057817 (on Assembly GRCh37)

Preferred name:

NM_207354.3(ANKRD13D):c.251G>T (p.Gly84Val)

HGVS:

• NC_000011.10:g.67290346G>T
• NG_052619.1:g.6056G>T
• NM_001347901.2:c.-11G>T
• NM_207354.3:c.251G>TMANE SELECT
• NP_997237.2:p.Gly84Val
• NP_997237.2:p.Gly84Val
• NC_000011.9:g.67057817G>T
• NM_207354.2:c.251G>T

This HGVS expression did not pass validation

Protein change:

G84V

Links:

dbSNP: rs386352277

NCBI 1000 Genomes Browser:

rs386352277

Molecular consequence:

• NM_001347901.2:c.-11G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_207354.3:c.251G>T - missense variant - [Sequence Ontology: SO:0001583]