RGD:8555534 Rat Genome Database

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Variant: RGD:8555534 -  Homo sapiens

RGD ID: 8555534
RS ID: rs121965018
ClinVar ID: CV15291
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYB5R3  LOC127896478  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 43,019,809
GRCh38 22 42,623,803
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.30597A>G
NC_000022.11:g.42623803T>C
NC_000022.10:g.43019809T>C
NP_000389.1:p.Asp240Gly
More...
11/29/2022 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity Diaphorase deficiency; METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE; NADH cytochrome B5 reductase deficiency; NADH diaphorase deficiency; NADH methemoglobin reductase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYB5R3
Accession:NM_000398
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 240
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIY
LSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIR
PDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLG
RAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF*

Gene Symbol:CYB5R3
Accession:NM_007326
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDK
GFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTG
ITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLGRAPEAWDYGQGFVNEEMIRDHLP
PPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF*

Gene Symbol:CYB5R3
Accession:NM_001171661
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDK
GFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTG
ITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLGRAPEAWDYGQGFVNEEMIRDHLP
PPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF*

Gene Symbol:CYB5R3
Accession:NM_001129819
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDK
GFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTG
ITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLGRAPEAWDYGQGFVNEEMIRDHLP
PPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF*

Gene Symbol:CYB5R3
Accession:NM_001171660
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRSLLVGCMQSKDIWGREESICERLKQDGLDVERAESWELGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRL
IDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKM
SQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLL
FANQTEKDILLRPELEELRNKHSARFKLWYTLGRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPN
LDHVGHPTERCFVF*

Gene Symbol:CYB5R3
Accession:XM_047441183
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLV
VRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIR
TVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLGRAPEAWDYGQ
GFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF*

Variant Samples
Additional References at PubMed
PMID:15953014   PMID:18318771   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000276 CLINVAR
  RCV002490285 CLINVAR
dbSNP (RS) rs121965018 CLINVAR
MedGen C0268193 CLINVAR
  C2749559 CLINVAR
NCBI Gene CYB5R3 CLINVAR
OMIM 250800 CLINVAR
  613213 CLINVAR
OMIM Allele 613213.0019 CLINVAR
SNOMED CT 124184009 CLINVAR