RGD:9686732 Rat Genome Database

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Variant: RGD:9686732 -  Homo sapiens

RGD ID: 9686732
RS ID: rs149516118
ClinVar ID: CV171127
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127822505  SDHD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 111,958,686
GRCh38 11 112,087,962
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.112087962C>T
NC_000011.9:g.111958686C>T
NM_003002.2:c.158C>T
NP_002993.1:p.Pro53Leu
More... 		06/05/2020 intron variant|missense variant uncertain significance|not provided 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; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Medullary paraganglioma; Neoplastic Syndromes, Hereditary; none provided; Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; Paragangliomas with sensorineural hearing loss; 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_001276506
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSLSHHSGSKAASLHWTSERVVSVLLLGLL
PAAYLNPCSAMDYSLAAALTLHGHWLECNGAILARHDLGSARSQLTATSAFRVQAILLPQPPK*

Gene Symbol:SDHD
Accession:NM_003002
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSLSHHSGSKAASLHWTSERVVSVLLLGLL
PAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL*

Gene Symbol:SDHD
Accession:NM_001276503
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSLSHHWALDKLLLTMFMGMPCRKLPRQGF
WHFQL*

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

Gene Symbol:SDHD
Accession:NM_001276504
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:22517554   PMID:23175444   PMID:25637381   PMID:25819804   PMID:25985138   PMID:26467025   PMID:28492532   PMID:30877234  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000148873 CLINVAR
  RCV000562737 CLINVAR
  RCV000759346 CLINVAR
  RCV002228536 CLINVAR
  RCV003483523 CLINVAR
dbSNP (RS) rs149516118 CLINVAR
MedGen C0027672 CLINVAR
  C0031511 CLINVAR
  C1847319 CLINVAR
  C3661900 CLINVAR
NCBI Gene SDHD CLINVAR
OMIM 171300 CLINVAR
  602690 CLINVAR
  606864 CLINVAR
SNOMED CT 699346009 CLINVAR