ClinVar

NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys)

Gene:

PDE6B:phosphodiesterase 6B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 662197 (on Assembly GRCh38)
• Chr4: 655986 (on Assembly GRCh37)

Preferred name:

NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys)

HGVS:

• NC_000004.12:g.662197C>T
• NG_009839.1:g.41624C>T
• NM_000283.4:c.1678C>TMANE SELECT
• NM_001145291.2:c.1678C>T
• NM_001145292.2:c.841C>T
• NM_001350154.3:c.841C>T
• NM_001350155.3:c.523C>T
• NM_001379246.1:c.841C>T
• NM_001379247.1:c.841C>T
• NP_000274.2:p.Arg560Cys
• NP_000274.3:p.Arg560Cys
• NP_001138763.2:p.Arg560Cys
• NP_001138764.2:p.Arg281Cys
• NP_001337083.1:p.Arg281Cys
• NP_001337084.1:p.Arg175Cys
• NP_001366175.1:p.Arg281Cys
• NP_001366176.1:p.Arg281Cys
• NC_000004.11:g.655986C>T
• NM_000283.3:c.1678C>T

This HGVS expression did not pass validation

Protein change:

R175C; ARG560CYS

Links:

OMIM: 180072.0008; dbSNP: rs201541131

NCBI 1000 Genomes Browser:

rs201541131

Molecular consequence:

• NM_000283.4:c.1678C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145291.2:c.1678C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145292.2:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350154.3:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350155.3:c.523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379246.1:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379247.1:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]