RGD:8555530 Rat Genome Database

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Variant: RGD:8555530 -  Homo sapiens

RGD ID: 8555530
RS ID: rs61732609
ClinVar ID: CV15287
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYB5R3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 43,023,680
GRCh38 22 42,627,674
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012194.1:g.26726C>T
NC_000022.11:g.42627674G>A
NC_000022.10:g.43023680G>A
NP_000389.1:p.Arg160Ter
More... 		04/13/2023 nonsense pathogenic Diaphorase deficiency; METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE; METHEMOGLOBINEMIA, TYPE II; NADH cytochrome B5 reductase deficiency; NADH diaphorase deficiency; NADH methemoglobin reductase deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYB5R3
Accession:NM_001171660
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRSLLVGCMQSKDIWGREESICERLKQDGLDVERAESWELGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRL
IDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKM
SQYLESMQIGDTIEFRGPSGLLVYQGKGKFAI*PDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLL
FANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPN
LDHVGHPTERCFVF*

Gene Symbol:CYB5R3
Accession:NM_000398
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIY
LSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAI*
PDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLD
RAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF*

Gene Symbol:CYB5R3
Accession:NM_001171661
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDK
GFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAI*PDKKSNPIIRTVKSVGMIAGGTG
ITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLP
PPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF*

Gene Symbol:CYB5R3
Accession:NM_007326
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDK
GFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAI*PDKKSNPIIRTVKSVGMIAGGTG
ITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLP
PPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF*

Gene Symbol:CYB5R3
Accession:XM_047441183
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLV
VRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAI*PDKKSNPIIR
TVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQ
GFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF*

Gene Symbol:CYB5R3
Accession:NM_001129819
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDK
GFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAI*PDKKSNPIIRTVKSVGMIAGGTG
ITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLP
PPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF*
Variant Samples
Additional References at PubMed
PMID:10874300   PMID:18318771   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000272 CLINVAR
  RCV000578723 CLINVAR
  RCV003485516 CLINVAR
dbSNP (RS) rs61732609 CLINVAR
MedGen C0268193 CLINVAR
  C2749560 CLINVAR
  C3661900 CLINVAR
NCBI Gene CYB5R3 CLINVAR
OMIM 250800 CLINVAR
  613213 CLINVAR
OMIM Allele 613213.0015 CLINVAR
SNOMED CT 124184009 CLINVAR