ClinVar

NM_020987.5(ANK3):c.8655C>A (p.His2885Gln)

Gene:

ANK3:ankyrin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.2

Genomic location:

• Chr10: 60072226 (on Assembly GRCh38)
• Chr10: 61831984 (on Assembly GRCh37)

Preferred name:

NM_020987.5(ANK3):c.8655C>A (p.His2885Gln)

HGVS:

• NC_000010.11:g.60072226G>T
• NG_029917.1:g.666301C>A
• NM_001149.4:c.1808-4217C>A
• NM_001204403.2:c.4388-4217C>A
• NM_001204404.2:c.4409-4217C>A
• NM_001320874.2:c.4406-4217C>A
• NM_020987.4:c.8655C>A
• NM_020987.5:c.8655C>AMANE SELECT
• NP_066267.2:p.His2885Gln
• NC_000010.10:g.61831984G>T
• NM_020987.3:c.8655C>A
• Q12955:p.His2885Gln

This HGVS expression did not pass validation

Protein change:

H2885Q

Links:

UniProtKB: Q12955#VAR_059115; dbSNP: rs11599164

NCBI 1000 Genomes Browser:

rs11599164

Molecular consequence:

• NM_001149.4:c.1808-4217C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204403.2:c.4388-4217C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204404.2:c.4409-4217C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320874.2:c.4406-4217C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_020987.5:c.8655C>A - missense variant - [Sequence Ontology: SO:0001583]