ClinVar

NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser)

Gene:

ANK3:ankyrin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.2

Genomic location:

• Chr10: 60076416 (on Assembly GRCh38)
• Chr10: 61836174 (on Assembly GRCh37)

Preferred name:

NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser)

HGVS:

• NC_000010.11:g.60076416G>A
• NG_029917.1:g.662111C>T
• NM_001149.4:c.1807+4121C>T
• NM_001204403.2:c.4387+4121C>T
• NM_001204404.2:c.4408+4121C>T
• NM_001320874.2:c.4405+4121C>T
• NM_020987.5:c.4465C>TMANE SELECT
• NP_066267.2:p.Pro1489Ser
• NC_000010.10:g.61836174G>A
• NM_020987.3:c.4465C>T
• NM_020987.4:c.4465C>T

This HGVS expression did not pass validation

Protein change:

P1489S

Links:

dbSNP: rs41274676

NCBI 1000 Genomes Browser:

rs41274676

Molecular consequence:

• NM_001149.4:c.1807+4121C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204403.2:c.4387+4121C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204404.2:c.4408+4121C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320874.2:c.4405+4121C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_020987.5:c.4465C>T - missense variant - [Sequence Ontology: SO:0001583]