ClinVar

NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)

Gene:

DNM1L:dynamin 1 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p11.21

Genomic location:

• Chr12: 32731362 (on Assembly GRCh38)
• Chr12: 32884296 (on Assembly GRCh37)

Preferred name:

NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)

Other names:

p.R403C:CGT>TGT

HGVS:

• NC_000012.12:g.32731362C>T
• NG_012219.1:g.57160C>T
• NM_001278463.2:c.1207C>T
• NM_001278464.2:c.1246C>T
• NM_001278465.2:c.1246C>T
• NM_001278466.2:c.598C>T
• NM_001330380.2:c.1246C>T
• NM_005690.5:c.1207C>T
• NM_012062.5:c.1207C>TMANE SELECT
• NM_012063.4:c.1207C>T
• NP_001265392.1:p.Arg403Cys
• NP_001265393.1:p.Arg416Cys
• NP_001265394.1:p.Arg416Cys
• NP_001265395.1:p.Arg200Cys
• NP_001317309.1:p.Arg416Cys
• NP_005681.2:p.Arg403Cys
• NP_036192.2:p.Arg403Cys
• NP_036193.2:p.Arg403Cys
• NC_000012.11:g.32884296C>T
• NM_005690.4:c.1207C>T
• NM_012062.3:c.1207C>T
• NM_012062.4:c.1207C>T
• O00429:p.Arg403Cys

This HGVS expression did not pass validation

Protein change:

R200C; ARG403CYS

Links:

UniProtKB: O00429#VAR_076318; OMIM: 603850.0006; dbSNP: rs863223953

NCBI 1000 Genomes Browser:

rs863223953

Molecular consequence:

• NM_001278463.2:c.1207C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278464.2:c.1246C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278465.2:c.1246C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278466.2:c.598C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330380.2:c.1246C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005690.5:c.1207C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012062.5:c.1207C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012063.4:c.1207C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1