ClinVar

NM_001005361.3(DNM2):c.315C>T (p.Thr105=)

Gene:

DNM2:dynamin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 10772558 (on Assembly GRCh38)
• Chr19: 10883234 (on Assembly GRCh37)

Preferred name:

NM_001005361.3(DNM2):c.315C>T (p.Thr105=)

HGVS:

• NC_000019.10:g.10772558C>T
• NG_008792.1:g.59480C>T
• NM_001005360.3:c.315C>T
• NM_001005361.3:c.315C>TMANE SELECT
• NM_001005362.3:c.315C>T
• NM_001190716.2:c.315C>T
• NM_004945.4:c.315C>T
• NP_001005360.1:p.Thr105=
• NP_001005360.1:p.Thr105=
• NP_001005361.1:p.Thr105=
• NP_001005362.1:p.Thr105=
• NP_001177645.1:p.Thr105=
• NP_004936.2:p.Thr105=
• LRG_238t1:c.315C>T
• LRG_238:g.59480C>T
• LRG_238p1:p.Thr105=
• NC_000019.9:g.10883234C>T
• NM_001005360.2:c.315C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs111837150

NCBI 1000 Genomes Browser:

rs111837150

Molecular consequence:

• NM_001005360.3:c.315C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005361.3:c.315C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005362.3:c.315C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001190716.2:c.315C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004945.4:c.315C>T - synonymous variant - [Sequence Ontology: SO:0001819]