ClinVar

NM_020987.5(ANK3):c.10953A>C (p.Lys3651Asn)

Gene:

ANK3:ankyrin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.2

Genomic location:

• Chr10: 60069928 (on Assembly GRCh38)
• Chr10: 61829686 (on Assembly GRCh37)

Preferred name:

NM_020987.5(ANK3):c.10953A>C (p.Lys3651Asn)

HGVS:

• NC_000010.11:g.60069928T>G
• NG_029917.1:g.668599A>C
• NM_001149.4:c.1808-1919A>C
• NM_001204403.2:c.4388-1919A>C
• NM_001204404.2:c.4409-1919A>C
• NM_001320874.2:c.4406-1919A>C
• NM_020987.5:c.10953A>CMANE SELECT
• NP_066267.2:p.Lys3651Asn
• NC_000010.10:g.61829686T>G
• NM_020987.4:c.10953A>C

This HGVS expression did not pass validation

Protein change:

K3651N

Links:

dbSNP: rs115903343

NCBI 1000 Genomes Browser:

rs115903343

Molecular consequence:

• NM_001149.4:c.1808-1919A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204403.2:c.4388-1919A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204404.2:c.4409-1919A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320874.2:c.4406-1919A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_020987.5:c.10953A>C - missense variant - [Sequence Ontology: SO:0001583]