ClinVar

NM_023007.3(JMJD4):c.675C>A (p.Asn225Lys)

Genes:

JMJD4:jumonji domain containing 4 [Gene - OMIM - HGNC]
SNAP47:synaptosome associated protein 47 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.13

Genomic location:

• Chr1: 227733561 (on Assembly GRCh38)
• Chr1: 227921262 (on Assembly GRCh37)

Preferred name:

NM_023007.3(JMJD4):c.675C>A (p.Asn225Lys)

HGVS:

• NC_000001.11:g.227733561G>T
• NM_001161465.2:c.675C>A
• NM_001323930.2:c.-46+4775G>T
• NM_001323932.2:c.-46+1814G>T
• NM_001323933.2:c.-46+1814G>T
• NM_023007.3:c.675C>AMANE SELECT
• NP_001154937.2:p.Asn225Lys
• NP_075383.3:p.Asn225Lys
• NC_000001.10:g.227921262G>T
• NM_023007.2:c.813C>A

This HGVS expression did not pass validation

Protein change:

N225K

Molecular consequence:

• NM_001323930.2:c.-46+4775G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323932.2:c.-46+1814G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323933.2:c.-46+1814G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001161465.2:c.675C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_023007.3:c.675C>A - missense variant - [Sequence Ontology: SO:0001583]