ClinVar

NM_130837.3(OPA1):c.1203G>C (p.Arg401=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

• Chr3: 193642818 (on Assembly GRCh38)
• Chr3: 193360607 (on Assembly GRCh37)

Preferred name:

NM_130837.3(OPA1):c.1203G>C (p.Arg401=)

HGVS:

• NC_000003.12:g.193642818G>C
• NG_011605.1:g.54675G>C
• NM_001354663.2:c.669G>C
• NM_001354664.2:c.666G>C
• NM_015560.3:c.1038G>C
• NM_130831.3:c.930G>C
• NM_130832.3:c.984G>C
• NM_130833.3:c.1041G>C
• NM_130834.3:c.1092G>C
• NM_130835.3:c.1095G>C
• NM_130836.3:c.1149G>C
• NM_130837.3:c.1203G>CMANE SELECT
• NP_001341592.1:p.Arg223=
• NP_001341593.1:p.Arg222=
• NP_056375.2:p.Arg346=
• NP_056375.2:p.Arg346=
• NP_570844.1:p.Arg310=
• NP_570845.1:p.Arg328=
• NP_570846.1:p.Arg347=
• NP_570847.2:p.Arg364=
• NP_570848.1:p.Arg365=
• NP_570849.2:p.Arg383=
• NP_570850.2:p.Arg401=
• NP_570850.2:p.Arg401=
• LRG_337t1:c.1038G>C
• LRG_337t2:c.1203G>C
• LRG_337:g.54675G>C
• LRG_337p1:p.Arg346=
• LRG_337p2:p.Arg401=
• NC_000003.11:g.193360607G>C
• NM_015560.2:c.1038G>C
• NM_130837.2:c.1203G>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_001354663.2:c.669G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354664.2:c.666G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015560.3:c.1038G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130831.3:c.930G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130832.3:c.984G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130833.3:c.1041G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130834.3:c.1092G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130835.3:c.1095G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130836.3:c.1149G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130837.3:c.1203G>C - synonymous variant - [Sequence Ontology: SO:0001819]