chr2:88747746:G>A Detail (hg19) (FOXI3)

Information

Genome

Assembly Position
hg19 chr2:88,747,746-88,747,746
hg38 chr2:88,448,227-88,448,227 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001135649.1:c.1242C>T NP_001129121.1:p.Pro414=
Ensemble ENST00000428390.3:c.1242C>T ENST00000428390.3:p.Pro414=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 612351 OMIM
HGNC 35123 HGNC
Ensembl ENSG00000214336 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
Likely pathogenic 2022-03-06 no assertion criteria provided Hemifacial microsomia germline not applicable Detail
Uncertain significance 2023-08-22 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001135649.3(FOXI3):c.1243C>T (p.Arg415Ter) AND Hemifacial microsomia ClinVar Detail
NM_001135649.3(FOXI3):c.1243C>T (p.Arg415Ter) 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
-
Genome
hg19
Position
chr2:88,747,746-88,747,746
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser