ClinVar

NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr)

Gene:

BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 218662565 (on Assembly GRCh38)
• Chr2: 219527288 (on Assembly GRCh37)

Preferred name:

NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr)

HGVS:

• NC_000002.12:g.218662565T>A
• NG_008018.1:g.7910T>A
• NG_033099.1:g.1976A>T
• NM_001079866.2:c.775T>AMANE SELECT
• NM_001257342.2:c.775T>A
• NM_001257343.2:c.775T>A
• NM_001257344.2:c.775T>A
• NM_001318836.2:c.415T>A
• NM_001320717.2:c.775T>A
• NM_001371443.1:c.775T>A
• NM_001371444.1:c.775T>A
• NM_001371446.1:c.775T>A
• NM_001371447.1:c.775T>A
• NM_001371448.1:c.775T>A
• NM_001371449.1:c.775T>A
• NM_001371450.1:c.775T>A
• NM_001371451.1:c.415T>A
• NM_001371452.1:c.274T>A
• NM_001371453.1:c.274T>A
• NM_001371454.1:c.274T>A
• NM_001371455.1:c.274T>A
• NM_001371456.1:c.274T>A
• NM_001374085.1:c.775T>A
• NM_001374086.1:c.274T>A
• NM_004328.5:c.775T>A
• NP_001073335.1:p.Ser259Thr
• NP_001244271.1:p.Ser259Thr
• NP_001244272.1:p.Ser259Thr
• NP_001244273.1:p.Ser259Thr
• NP_001305765.1:p.Ser139Thr
• NP_001307646.1:p.Ser259Thr
• NP_001358372.1:p.Ser259Thr
• NP_001358373.1:p.Ser259Thr
• NP_001358375.1:p.Ser259Thr
• NP_001358376.1:p.Ser259Thr
• NP_001358377.1:p.Ser259Thr
• NP_001358378.1:p.Ser259Thr
• NP_001358379.1:p.Ser259Thr
• NP_001358380.1:p.Ser139Thr
• NP_001358381.1:p.Ser92Thr
• NP_001358382.1:p.Ser92Thr
• NP_001358383.1:p.Ser92Thr
• NP_001358384.1:p.Ser92Thr
• NP_001358385.1:p.Ser92Thr
• NP_001361014.1:p.Ser259Thr
• NP_001361015.1:p.Ser92Thr
• NP_004319.1:p.Ser259Thr
• LRG_539t1:c.775T>A
• LRG_539:g.7910T>A
• NC_000002.11:g.219527288T>A
• NM_004328.4:c.775T>A
• NR_163955.1:n.1782T>A
• p.Ser259Thr

This HGVS expression did not pass validation

Protein change:

S139T

Links:

dbSNP: rs77729067

NCBI 1000 Genomes Browser:

rs77729067

Molecular consequence:

• NM_001079866.2:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257342.2:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257343.2:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257344.2:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318836.2:c.415T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320717.2:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371443.1:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371444.1:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371446.1:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371447.1:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371448.1:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371449.1:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371450.1:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371451.1:c.415T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371452.1:c.274T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371453.1:c.274T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371454.1:c.274T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371455.1:c.274T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371456.1:c.274T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374085.1:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374086.1:c.274T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004328.5:c.775T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_163955.1:n.1782T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]