ClinVar

NM_004408.4(DNM1):c.1764C>T (p.Leu588=)

Gene:

DNM1:dynamin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 128246486 (on Assembly GRCh38)
• Chr9: 131008765 (on Assembly GRCh37)

Preferred name:

NM_004408.4(DNM1):c.1764C>T (p.Leu588=)

HGVS:

• NC_000009.12:g.128246486C>T
• NG_029726.1:g.48103C>T
• NM_001005336.3:c.1764C>T
• NM_001288737.2:c.1764C>T
• NM_001288738.2:c.1764C>T
• NM_001288739.2:c.1764C>T
• NM_004408.4:c.1764C>TMANE SELECT
• NP_001005336.1:p.Leu588=
• NP_001275666.1:p.Leu588=
• NP_001275667.1:p.Leu588=
• NP_001275668.1:p.Leu588=
• NP_004399.2:p.Leu588=
• NC_000009.11:g.131008765C>T
• NM_004408.2:c.1764C>T
• NM_004408.3:c.1764C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs111534551

NCBI 1000 Genomes Browser:

rs111534551

Molecular consequence:

• NM_001005336.3:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288737.2:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288738.2:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288739.2:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004408.4:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]