ClinVar

NM_198428.3(BBS9):c.557A>G (p.Tyr186Cys)

Gene:

BBS9:Bardet-Biedl syndrome 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p14.3

Genomic location:

• Chr7: 33257350 (on Assembly GRCh38)
• Chr7: 33296962 (on Assembly GRCh37)

Preferred name:

NM_198428.3(BBS9):c.557A>G (p.Tyr186Cys)

HGVS:

• NC_000007.14:g.33257350A>G
• NG_009306.2:g.133107A>G
• NM_001033604.2:c.557A>G
• NM_001033605.2:c.557A>G
• NM_001348036.1:c.557A>G
• NM_001348037.3:c.191A>G
• NM_001348038.3:c.284A>G
• NM_001348039.3:c.284A>G
• NM_001348040.3:c.557A>G
• NM_001348041.4:c.557A>G
• NM_001348042.3:c.422A>G
• NM_001348043.3:c.557A>G
• NM_001348044.3:c.191A>G
• NM_001348045.3:c.191A>G
• NM_001348046.3:c.191A>G
• NM_001362679.1:c.557A>G
• NM_001412127.2:c.557A>G
• NM_001412128.2:c.557A>G
• NM_014451.4:c.557A>G
• NM_198428.3:c.557A>GMANE SELECT
• NP_001028776.1:p.Tyr186Cys
• NP_001028777.1:p.Tyr186Cys
• NP_001334965.1:p.Tyr186Cys
• NP_001334966.1:p.Tyr64Cys
• NP_001334967.1:p.Tyr95Cys
• NP_001334968.1:p.Tyr95Cys
• NP_001334969.1:p.Tyr186Cys
• NP_001334970.1:p.Tyr186Cys
• NP_001334971.1:p.Tyr141Cys
• NP_001334972.1:p.Tyr186Cys
• NP_001334973.1:p.Tyr64Cys
• NP_001334974.1:p.Tyr64Cys
• NP_001334975.1:p.Tyr64Cys
• NP_001349608.1:p.Tyr186Cys
• NP_001399056.1:p.Tyr186Cys
• NP_001399057.1:p.Tyr186Cys
• NP_055266.2:p.Tyr186Cys
• NP_940820.1:p.Tyr186Cys
• NC_000007.13:g.33296962A>G
• NR_145411.1:n.836A>G
• NR_145412.1:n.836A>G
• NR_145413.3:n.1046A>G

This HGVS expression did not pass validation

Protein change:

Y141C

Molecular consequence:

• NM_001033604.2:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033605.2:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348036.1:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348037.3:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348038.3:c.284A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348039.3:c.284A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348040.3:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348041.4:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348042.3:c.422A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348043.3:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348044.3:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348045.3:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348046.3:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362679.1:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001412127.2:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001412128.2:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_014451.4:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_198428.3:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_145411.1:n.836A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_145412.1:n.836A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_145413.3:n.1046A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]