chr3:70972667:G>A Detail (hg38) (FOXP1)

Information

Genome

Assembly Position
hg19 chr3:71,021,818-71,021,818 View the variant detail on this assembly version.
hg38 chr3:70,972,667-70,972,667

HGVS

Type Transcript Protein
RefSeq NM_032682.5:c.1540C>T NP_116071.2:p.Arg514Cys
NM_001244816.1:c.979C>T NP_001231745.1:p.Arg327Cys
NM_001244812.1:c.1312C>T NP_001231741.1:p.Arg438Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 605515 OMIM
HGNC 3823 HGNC
Ensembl ENSG00000114861 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
Pathogenic 2022-01-05 criteria provided, multiple submitters, no conflicts intellectual disability-severe speech delay-mild dysmorphism syndrome de novo germline not applicable Detail
Pathogenic 2023-12-18 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-01-06 criteria provided, single submitter FOXP1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) AND Intellectual disability-severe speech delay-mild d... ClinVar Detail
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) AND not provided ClinVar Detail
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) AND FOXP1-related disorder 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
rs869025203 dbSNP
Genome
hg38
Position
chr3:70,972,667-70,972,667
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser