chrX:43591036:G>T Detail (hg19) (MAOA)

Information

Genome

Assembly Position
hg19 chrX:43,591,036-43,591,036
hg38 chrX:43,731,789-43,731,789 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000240.3:c.891G>T NP_000231.1:p.Arg297=
NM_001270458.1:c.492G>T NP_001257387.1:p.Arg164=
Ensemble ENST00000338702.4:c.891G>T ENST00000338702.4:p.Arg297=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.395
ToMMo:0.414
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.441

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 309850 OMIM
HGNC 6833 HGNC
Ensembl ENSG00000189221 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv66548250 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-07-16 criteria provided, single submitter not specified germline Detail
Benign 2024-01-30 criteria provided, multiple submitters, no conflicts Brunner Syndrome germline Detail
Benign 2015-06-22 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.329 attention deficit hyperactivity disorder Gene-gene interaction analysis revealed significant additive effect of DBH rs110... BeFree 21216270 Detail
0.178 attention deficit hyperactivity disorder Gene-gene interaction analysis revealed significant additive effect of DBH rs110... BeFree 21216270 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000240.4(MAOA):c.891G>T (p.Arg297=) AND not specified ClinVar Detail
NM_000240.4(MAOA):c.891G>T (p.Arg297=) AND Brunner syndrome ClinVar Detail
NM_000240.4(MAOA):c.891G>T (p.Arg297=) AND Inborn genetic diseases ClinVar Detail
Gene-gene interaction analysis revealed significant additive effect of DBH rs1108580 and DRD4 rs1800... DisGeNET Detail
Gene-gene interaction analysis revealed significant additive effect of DBH rs1108580 and DRD4 rs1800... DisGeNET 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
rs6323 dbSNP
Genome
hg19
Position
chrX:43,591,036-43,591,036
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1203
Mean of sample read depth (HGVD)
60.71
Standard deviation of sample read depth (HGVD)
32.97
Number of reference allele (HGVD)
1455
Number of alternative allele (HGVD)
951
Allele Frequency (HGVD)
0.39526184538653364
Gene Symbol (HGVD)
MAOA
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs6323
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4142
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5319
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12843
East Asian Chromosome Counts (ExAC)
6563
East Asian Allele Counts (ExAC)
2895
East Asian Heterozygous Counts (ExAC)
1086
East Asian Homozygous Counts (ExAC)
461
East Asian Allele Frequency (ExAC)
0.4411092488191376
Chromosome Counts in All Race (ExAC)
87434
Allele Counts in All Race (ExAC)
57088
Heterozygous Counts in All Race (ExAC)
11028
Homozygous Counts in All Race (ExAC)
12444
Allele Frequency in All Race (ExAC)
0.6529267790562024
East Asian Hemizygous Counts (ExAC)
887
Hemizygous Counts in All Race (ExAC)
21172
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