RGD:12881231 Rat Genome Database

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Variant: RGD:12881231 -  Homo sapiens

RGD ID: 12881231
RS ID: rs201869798
ClinVar ID: CV398070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 111,965,545
GRCh38 11 112,094,821
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012337.3:g.12975G>A
NC_000011.10:g.112094821G>A
NC_000011.9:g.111965545G>A
NP_001263432.1:p.Leu62=
More... 		02/16/2023 3 prime utr variant|missense variant likely benign|uncertain significance adolescent <1 / 1 000 000 Cancer predisposition; Carney dyad; Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma; Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Cowden syndrome 3; Glomus tumors familial 1; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Medullary paraganglioma; MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; Neoplastic Syndromes, Hereditary; none provided; Paraganglioma - glomus jugulare; Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; Paragangliomas familial 1; Paragangliomas with sensorineural hearing loss; PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; Paragangliomata; PGL 1; Pheochromocytoma; Tumor predisposition
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SDHD
Accession:NM_001276506
Location:3UTRS;EXON

Gene Symbol:SDHD
Accession:NM_001276504
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRAGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVITDYVHGDA
LQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL*

Gene Symbol:SDHD
Accession:NM_003002
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 111
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLL
PAAYLNPCSAMDYSLAAALTLHGHWGLGQVITDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL*

Gene Symbol:SDHD
Accession:NM_001276503
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHWALDKLLLTMFMGMPCRKLPRQGF
WHFQL*

Gene Symbol:SDHD
Accession:NR_077060
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:17308434   PMID:24134185   PMID:25741868   PMID:28492532   PMID:33219105  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000565076 CLINVAR
  RCV001591105 CLINVAR
  RCV002230665 CLINVAR
  RCV003325203 CLINVAR
  RCV003476144 CLINVAR
dbSNP (RS) rs201869798 CLINVAR
MedGen C0027672 CLINVAR
  C1847319 CLINVAR
  C3494181 CLINVAR
  C3661900 CLINVAR
  C5436934 CLINVAR
NCBI Gene SDHD CLINVAR
OMIM 168000 CLINVAR
  171300 CLINVAR
  602690 CLINVAR
  606864 CLINVAR
  619167 CLINVAR
SNOMED CT 699346009 CLINVAR