chr11:66211206:C>T Detail (hg38) (PACS1)

Information

Genome

Assembly Position
hg19 chr11:65,978,677-65,978,677 View the variant detail on this assembly version.
hg38 chr11:66,211,206-66,211,206

HGVS

Type Transcript Protein
RefSeq NM_018026.3:c.607C>T NP_060496.2:p.Arg203Trp
Ensemble ENST00000320580.9:c.607C>T ENST00000320580.9:p.Arg203Trp
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 Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 607492 OMIM
HGNC 30032 HGNC
Ensembl ENSG00000175115 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM72051 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-16 criteria provided, multiple submitters, no conflicts Schuurs-Hoeijmakers Syndrome de novo germline unknown Detail
Pathogenic 2022-10-04 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic Likely pathogenic 2023-02-08 criteria provided, multiple submitters, no conflicts not provided de novo germline Detail
Pathogenic criteria provided, single submitter germline Detail
Pathogenic 2020-02-05 criteria provided, single submitter PACS1-related syndrome unknown Detail
Pathogenic 2019-11-01 criteria provided, single submitter Global developmental delay de novo Detail
Pathogenic 2021-03-08 criteria provided, single submitter intellectual disability de novo Detail
Pathogenic 2022-11-07 criteria provided, single submitter Neurodevelopmental disorder germline Detail
Pathogenic 2022-12-21 criteria provided, multiple submitters, no conflicts de novo germline Detail
Pathogenic 2023-05-29 criteria provided, single submitter PACS1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) AND Schuurs-Hoeijmakers syndrome ClinVar Detail
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) AND Inborn genetic diseases ClinVar Detail
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) AND not provided ClinVar Detail
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) AND multiple conditions ClinVar Detail
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) AND PACS1-related syndrome ClinVar Detail
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) AND Global developmental delay ClinVar Detail
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) AND Intellectual disability ClinVar Detail
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) AND Neurodevelopmental disorder ClinVar Detail
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) AND See cases ClinVar Detail
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) AND PACS1-related disorder ClinVar Detail
NA 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
rs398123009 dbSNP
Genome
hg38
Position
chr11:66,211,206-66,211,206
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121410
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.236553825879253E-6
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