chr16:89350753:G>A Detail (hg19) (ANKRD11)

Information

Genome

Assembly Position
hg19 chr16:89,350,753-89,350,753
hg38 chr16:89,284,345-89,284,345 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001256182.1:c.2197C>T NP_001243111.1:p.Arg733Ter
NM_001256183.1:c.2197C>T NP_001243112.1:p.Arg733Ter
NM_013275.5:c.2197C>T NP_037407.4:p.Arg733Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 611192 OMIM
HGNC 21316 HGNC
Ensembl ENSG00000167522 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 2023-01-01 criteria provided, multiple submitters, no conflicts not provided de novo germline Detail
Pathogenic Likely pathogenic 2023-05-26 criteria provided, multiple submitters, no conflicts KBG syndrome germline maternal unknown Detail
Pathogenic 2017-01-12 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) AND not provided ClinVar Detail
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) AND KBG syndrome ClinVar Detail
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) AND Inborn genetic diseases 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
rs886041791 dbSNP
Genome
hg19
Position
chr16:89,350,753-89,350,753
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser