RGD:8559619 Rat Genome Database

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Variant: RGD:8559619 -  Homo sapiens

RGD ID: 8559619
RS ID: rs104894302
ClinVar ID: CV21937
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHD  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 111,959,726
GRCh38 11 112,089,002
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
NC_000011.10:g.112089002A>T
NC_000011.9:g.111959726A>T
NM_003002.2:c.305A>T
NP_002993.1:p.His102Leu
More... 		11/06/2018 intron|intron variant|missense|non-coding transcript variant pathogenic|likely pathogenic childhood 1-9 / 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; Neoplastic Syndromes, Hereditary; 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
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SDHD
Accession:NM_003002
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLL
PAAYLNPCSAMDYSLAAALTLLGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL*

Gene Symbol:SDHD
Accession:NM_001276506
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLL
PAAYLNPCSAMDYSLAAALTLLGHWLECNGAILARHDLGSARSQLTATSAFRVQAILLPQPPK*

Gene Symbol:SDHD
Accession:NM_001276504
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRAGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLLGHWGLGQVVTDYVHGDA
LQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL*

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

Gene Symbol:SDHD
Accession:NM_001276503
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10657297   PMID:12811540   PMID:22025150   PMID:22241717   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007307 CLINVAR
  RCV000566289 CLINVAR
  RCV002228003 CLINVAR
dbSNP (RS) rs104894302 CLINVAR
MedGen C0027672 CLINVAR
  C1847319 CLINVAR
  C3494181 CLINVAR
NCBI Gene SDHD CLINVAR
OMIM 168000 CLINVAR
  171300 CLINVAR
  602690 CLINVAR
  606864 CLINVAR
OMIM Allele 602690.0005 CLINVAR
SNOMED CT 699346009 CLINVAR