ClinVar

NM_020987.5(ANK3):c.12294C>T (p.Ala4098=)

Gene:

ANK3:ankyrin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.2

Genomic location:

• Chr10: 60067960 (on Assembly GRCh38)
• Chr10: 61827718 (on Assembly GRCh37)

Preferred name:

NM_020987.5(ANK3):c.12294C>T (p.Ala4098=)

HGVS:

• NC_000010.11:g.60067960G>A
• NG_029917.1:g.670567C>T
• NM_001149.4:c.1857C>T
• NM_001204403.2:c.4437C>T
• NM_001204404.2:c.4458C>T
• NM_001320874.2:c.4455C>T
• NM_020987.5:c.12294C>TMANE SELECT
• NP_001140.2:p.Ala619=
• NP_001191332.1:p.Ala1479=
• NP_001191333.1:p.Ala1486=
• NP_001307803.1:p.Ala1485=
• NP_066267.2:p.Ala4098=
• NC_000010.10:g.61827718G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001149.4:c.1857C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204403.2:c.4437C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204404.2:c.4458C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320874.2:c.4455C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020987.5:c.12294C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1