ClinVar

NM_001008212.2(OPTN):c.123G>A (p.Leu41=)

Genes:

LOC108903148:10p13 OPTN distal Alu-mediated recombination region [Gene]
OPTN:optineurin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

• Chr10: 13109245 (on Assembly GRCh38)
• Chr10: 13151245 (on Assembly GRCh37)

Preferred name:

NM_001008212.2(OPTN):c.123G>A (p.Leu41=)

HGVS:

• NC_000010.11:g.13109245G>A
• NG_012876.1:g.14164G>A
• NG_051826.1:g.801G>A
• NM_001008211.1:c.123G>A
• NM_001008212.2:c.123G>AMANE SELECT
• NM_001008213.1:c.123G>A
• NM_021980.4:c.123G>A
• NP_001008212.1:p.Leu41=
• NP_001008213.1:p.Leu41=
• NP_001008214.1:p.Leu41=
• NP_068815.2:p.Leu41=
• NC_000010.10:g.13151245G>A
• NP_068815.2:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs11591687

NCBI 1000 Genomes Browser:

rs11591687

Molecular consequence:

• NM_001008211.1:c.123G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001008212.2:c.123G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001008213.1:c.123G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021980.4:c.123G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2