ClinVar

NM_020987.5(ANK3):c.11151G>A (p.Lys3717=)

Gene:

ANK3:ankyrin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.2

Genomic location:

• Chr10: 60069730 (on Assembly GRCh38)
• Chr10: 61829488 (on Assembly GRCh37)

Preferred name:

NM_020987.5(ANK3):c.11151G>A (p.Lys3717=)

HGVS:

• NC_000010.11:g.60069730C>T
• NG_029917.1:g.668797G>A
• NM_001149.4:c.1808-1721G>A
• NM_001204403.2:c.4388-1721G>A
• NM_001204404.2:c.4409-1721G>A
• NM_001320874.2:c.4406-1721G>A
• NM_020987.5:c.11151G>AMANE SELECT
• NP_066267.2:p.Lys3717=
• NC_000010.10:g.61829488C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001149.4:c.1808-1721G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204403.2:c.4388-1721G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204404.2:c.4409-1721G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320874.2:c.4406-1721G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_020987.5:c.11151G>A - synonymous variant - [Sequence Ontology: SO:0001819]