ClinVar

NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)

Gene:

FDXR:ferredoxin reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

• Chr17: 74866175 (on Assembly GRCh38)
• Chr17: 72862297 (on Assembly GRCh37)

Preferred name:

NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)

HGVS:

• NC_000017.11:g.74866175G>A
• NM_001258012.4:c.592C>T
• NM_001258013.4:c.556C>T
• NM_001258014.4:c.439C>T
• NM_001258015.3:c.343C>T
• NM_001258016.3:c.307C>T
• NM_004110.6:c.463C>T
• NM_024417.5:c.463C>TMANE SELECT
• NP_001244941.2:p.Arg198Trp
• NP_001244942.2:p.Arg186Trp
• NP_001244943.2:p.Arg147Trp
• NP_001244944.1:p.Arg115Trp
• NP_001244945.2:p.Arg103Trp
• NP_004101.3:p.Arg155Trp
• NP_077728.3:p.Arg155Trp
• NC_000017.10:g.72862297G>A
• NM_004110.3:c.463C>T
• NM_024417.4:c.463C>T
• NR_047576.3:n.613C>T

This HGVS expression did not pass validation

Protein change:

R103W; ARG155TRP

Links:

OMIM: 103270.0008; dbSNP: rs752675360

NCBI 1000 Genomes Browser:

rs752675360

Molecular consequence:

• NM_001258012.4:c.592C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258013.4:c.556C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258014.4:c.439C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258015.3:c.343C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258016.3:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004110.6:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024417.5:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_047576.3:n.613C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1