ClinVar

NM_130837.3(OPA1):c.124C>T (p.His42Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

• Chr3: 193614814 (on Assembly GRCh38)
• Chr3: 193332603 (on Assembly GRCh37)

Preferred name:

NM_130837.3(OPA1):c.124C>T (p.His42Tyr)

HGVS:

• NC_000003.12:g.193614814C>T
• NG_011605.1:g.26671C>T
• NM_001354663.2:c.-249C>T
• NM_001354664.2:c.-249C>T
• NM_015560.3:c.124C>T
• NM_130831.3:c.124C>T
• NM_130832.3:c.124C>T
• NM_130833.3:c.124C>T
• NM_130834.3:c.124C>T
• NM_130835.3:c.124C>T
• NM_130836.3:c.124C>T
• NM_130837.3:c.124C>TMANE SELECT
• NP_056375.2:p.His42Tyr
• NP_570844.1:p.His42Tyr
• NP_570845.1:p.His42Tyr
• NP_570846.1:p.His42Tyr
• NP_570847.2:p.His42Tyr
• NP_570848.1:p.His42Tyr
• NP_570849.2:p.His42Tyr
• NP_570850.2:p.His42Tyr
• LRG_337:g.26671C>T
• NC_000003.11:g.193332603C>T

This HGVS expression did not pass validation

Protein change:

H42Y

Links:

dbSNP: rs145563233

NCBI 1000 Genomes Browser:

rs145563233

Molecular consequence:

• NM_001354663.2:c.-249C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354664.2:c.-249C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_015560.3:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130831.3:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130832.3:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130833.3:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130834.3:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130835.3:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130836.3:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130837.3:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]