RGD:25326943 Rat Genome Database

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Variant: RGD:25326943 -  Homo sapiens

RGD ID: 25326943
RS ID: rs1579448683
ClinVar ID: CV808649
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDHA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 256,493
GRCh38 5 256,378
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004168.4:c.1953G>A
NG_012339.1:g.43138G>A
NC_000005.10:g.256378G>A
NC_000005.9:g.256493G>A
More... 		08/26/2019 synonymous variant likely benign Cancer predisposition; Complex 2 mitochondrial respiratory chain deficiency; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Mitochondrial complex II deficiency; Neoplastic Syndromes, Hereditary; Paragangliomas 5; PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5; Succinate CoQ reductase deficiency; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SDHA
Accession:NM_004168
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 651
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDHEFDAVVVGAGGAGLRAAFGL
SEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWRWHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPF
SRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFALDLLMENGECRGVIALCIE
DGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQDLEFVQFHPTGIYGAGCLITEGCRGEGGILIN
SQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPEKDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPI
PVLPTVHYNMGGIPTNYKGQVLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDK
VPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRVGSVLQEGCGKISKLYGDLKHLKTFDRGMVWNT
DLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVRIDEYDYSKPIQGQQKKPFEEHWRKHTLSYVDVGTGKVTLE
YRPVIDKTLNEADCATVPPAIRSY*

Gene Symbol:SDHA
Accession:NM_001294332
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 603
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDHEFDAVVVGAGGAGLRAAFGL
SEAGFNTACVTKLFPTRSHTVAAQLENYGMPFSRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRS
LRYDTSYFVEYFALDLLMENGECRGVIALCIEDGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQ
DLEFVQFHPTGIYGAGCLITEGCRGEGGILINSQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPEKDHVYLQL
HHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQVLRHVNGQDQIVPGLYACGEAACASVHG
ANRLGANSLLDLVVFGRACALSIEESCRPGDKVPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRV
GSVLQEGCGKISKLYGDLKHLKTFDRGMVWNTDLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVRIDEYDYSK
PIQGQQKKPFEEHWRKHTLSYVDVGTGKVTLEYRPVIDKTLNEADCATVPPAIRSY*

Gene Symbol:SDHA
Accession:NM_001330758
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 570
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDHEFDAVVVGAGGAGLRAAFGL
SEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWRWHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPF
SRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFALDLLMENGECRGVIALCIE
DGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQDLEFVQFHPTGIYGAGCLITEGCRGEGGILIN
SQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPEKDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPI
PVLPTVHYNMGGIPTNYKGQVLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDK
VPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKVRIDEYDYSKPIQGQQKKPFEEHWRKHTLSYVDVGTGKVTLEY
RPVIDKTLNEADCATVPPAIRSY*

Gene Symbol:SDHA
Accession:XM_011514073
Location:INTRON

Gene Symbol:SDHA
Accession:XM_047417467
Location:INTRON

Gene Symbol:SDHA
Accession:XM_011514072
Location:INTRON

Gene Symbol:SDHA
Accession:XR_007058614
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001013825 CLINVAR
  RCV002068877 CLINVAR
dbSNP (RS) rs1579448683 CLINVAR
MedGen C0027672 CLINVAR
  C5700310 CLINVAR
NCBI Gene SDHA CLINVAR
OMIM 252011 CLINVAR
  600857 CLINVAR
  614165 CLINVAR
SNOMED CT 699346009 CLINVAR