RGD:11094276 Rat Genome Database

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Variant: RGD:11094276 -  Homo sapiens

RGD ID: 11094276
RS ID: rs750857413
ClinVar ID: CV234440
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHD  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 111,965,567
GRCh38 11 112,094,843
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_001276504.2:c.236A>G
NM_003002.4:c.353A>G
NG_012337.3:g.12997A>G
NC_000011.10:g.112094843A>G
More... 		09/16/2019 3 prime utr variant|missense variant uncertain significance adult 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; 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:3UTRS;EXON

Gene Symbol:SDHD
Accession:NM_001276504
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRAGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGGA
LQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL*

Gene Symbol:SDHD
Accession:NM_001276503
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHWALDKLLLTMFMGVPCRKLPRQGF
WHFQL*

Gene Symbol:SDHD
Accession:NM_003002
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLL
PAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGGALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000220846 CLINVAR
  RCV002229337 CLINVAR
dbSNP (RS) rs750857413 CLINVAR
MedGen C0027672 CLINVAR
  C1847319 CLINVAR
NCBI Gene SDHD CLINVAR
OMIM 171300 CLINVAR
  602690 CLINVAR
  606864 CLINVAR
SNOMED CT 699346009 CLINVAR