RGD:15201224 Rat Genome Database

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Variant: RGD:15201224 -  Homo sapiens

RGD ID: 15201224
RS ID: rs1592780682
ClinVar ID: CV768203
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHD  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 111,959,712
GRCh38 11 112,088,988
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001276503.2:c.169+1015A>C
NM_001276504.2:c.174A>C
NM_001276506.2:c.291A>C
NM_003002.4:c.291A>C
More... 		07/17/2019 intron variant likely benign 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_003002
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLL
PAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL*

Gene Symbol:SDHD
Accession:NM_001276506
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLL
PAAYLNPCSAMDYSLAAALTLHGHWLECNGAILARHDLGSARSQLTATSAFRVQAILLPQPPK*

Gene Symbol:SDHD
Accession:NM_001276504
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLWRLSAVCGALGGRAGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDA
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001016929 CLINVAR
  RCV002235704 CLINVAR
dbSNP (RS) rs1592780682 CLINVAR
MedGen C0027672 CLINVAR
  C1847319 CLINVAR
NCBI Gene SDHD CLINVAR
OMIM 171300 CLINVAR
  602690 CLINVAR
  606864 CLINVAR
SNOMED CT 699346009 CLINVAR