ClinVar

NM_130837.3(OPA1):c.1383G>A (p.Val461=)

Gene:

OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

• Chr3: 193643533 (on Assembly GRCh38)
• Chr3: 193361322 (on Assembly GRCh37)

Preferred name:

NM_130837.3(OPA1):c.1383G>A (p.Val461=)

HGVS:

• NC_000003.12:g.193643533G>A
• NG_011605.1:g.55390G>A
• NM_001354663.2:c.849G>A
• NM_001354664.2:c.846G>A
• NM_015560.3:c.1218G>A
• NM_130831.3:c.1110G>A
• NM_130832.3:c.1164G>A
• NM_130833.3:c.1221G>A
• NM_130834.3:c.1272G>A
• NM_130835.3:c.1275G>A
• NM_130836.3:c.1329G>A
• NM_130837.3:c.1383G>AMANE SELECT
• NP_001341592.1:p.Val283=
• NP_001341593.1:p.Val282=
• NP_056375.2:p.Val406=
• NP_056375.2:p.Val406=
• NP_570844.1:p.Val370=
• NP_570845.1:p.Val388=
• NP_570846.1:p.Val407=
• NP_570847.2:p.Val424=
• NP_570848.1:p.Val425=
• NP_570849.2:p.Val443=
• NP_570850.2:p.Val461=
• NP_570850.2:p.Val461=
• LRG_337t1:c.1218G>A
• LRG_337t2:c.1383G>A
• LRG_337:g.55390G>A
• LRG_337p1:p.Val406=
• LRG_337p2:p.Val461=
• NC_000003.11:g.193361322G>A
• NM_015560.2:c.1218G>A
• NM_130837.2:c.1383G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001354663.2:c.849G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354664.2:c.846G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015560.3:c.1218G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130831.3:c.1110G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130832.3:c.1164G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130833.3:c.1221G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130834.3:c.1272G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130835.3:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130836.3:c.1329G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130837.3:c.1383G>A - synonymous variant - [Sequence Ontology: SO:0001819]