chr5:233598:A>G Detail (hg19) (SDHA)

Information

Genome

Assembly Position
hg19 chr5:233,598-233,598
hg38 chr5:233,483-233,483 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004168.3:c.902A>G NP_004159.2:p.Tyr301Cys
NM_001330758.1:c.902A>G NP_001317687.1:p.Tyr301Cys
NM_001294332.1:c.758A>G NP_001281261.1:p.Tyr253Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 600857 OMIM
HGNC 10680 HGNC
Ensembl ENSG00000073578 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-26 criteria provided, single submitter Paragangliomas 5,Mitochondrial complex II deficiency, nuclear type 1 germline Detail
Uncertain significance 2024-01-26 criteria provided, single submitter Paragangliomas 5,Mitochondrial complex II deficiency, nuclear type 1 germline Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Mitochondrial complex II deficiency, nuclear type 1,dilated cardiomyopathy 1GG,Paragangliomas 5,Leigh syndrome unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Mitochondrial complex II deficiency, nuclear type 1,dilated cardiomyopathy 1GG,Paragangliomas 5,Leigh syndrome unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Mitochondrial complex II deficiency, nuclear type 1,dilated cardiomyopathy 1GG,Paragangliomas 5,Leigh syndrome unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Mitochondrial complex II deficiency, nuclear type 1,dilated cardiomyopathy 1GG,Paragangliomas 5,Leigh syndrome unknown Detail
Uncertain significance 2023-01-12 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-09-14 criteria provided, single submitter not provided unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) AND multiple conditions ClinVar Detail
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) AND multiple conditions ClinVar Detail
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) AND multiple conditions ClinVar Detail
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) AND multiple conditions ClinVar Detail
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) AND multiple conditions ClinVar Detail
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) AND multiple conditions ClinVar Detail
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) AND not provided ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs182055219 dbSNP
Genome
hg19
Position
chr5:233,598-233,598
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121410
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4709661477637757E-5
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