ClinVar

NM_004408.4(DNM1):c.134G>A (p.Ser45Asn)

Genes:

CIZ1:CDKN1A interacting zinc finger protein 1 [Gene - OMIM - HGNC]
DNM1:dynamin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 128203604 (on Assembly GRCh38)
• Chr9: 130965883 (on Assembly GRCh37)

Preferred name:

NM_004408.4(DNM1):c.134G>A (p.Ser45Asn)

HGVS:

• NC_000009.12:g.128203604G>A
• NG_029726.1:g.5221G>A
• NG_032983.1:g.5780C>T
• NM_001005336.3:c.134G>A
• NM_001131015.2:c.-6+582C>T
• NM_001288737.2:c.134G>A
• NM_001288738.2:c.134G>A
• NM_001288739.2:c.134G>A
• NM_001374269.1:c.134G>A
• NM_004408.4:c.134G>AMANE SELECT
• NM_012127.3:c.-6+582C>T
• NP_001005336.1:p.Ser45Asn
• NP_001275666.1:p.Ser45Asn
• NP_001275667.1:p.Ser45Asn
• NP_001275668.1:p.Ser45Asn
• NP_001361198.1:p.Ser45Asn
• NP_004399.2:p.Ser45Asn
• NC_000009.11:g.130965883G>A
• NM_004408.2:c.134G>A
• NM_004408.3:c.134G>A

This HGVS expression did not pass validation

Protein change:

S45N

Links:

dbSNP: rs1554767317

NCBI 1000 Genomes Browser:

rs1554767317

Molecular consequence:

• NM_001131015.2:c.-6+582C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_012127.3:c.-6+582C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001005336.3:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288737.2:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288738.2:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288739.2:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374269.1:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004408.4:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1