chr8:90967509:A>T Detail (hg19) (NBN)

Information

Genome

Assembly Position
hg19 chr8:90,967,509-90,967,509
hg38 chr8:89,955,281-89,955,281 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002485.4:c.1397+2T>A
NM_001024688.2:c.1151+2T>A
Ensemble ENST00000265433.8:c.1397+2T>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 602667 OMIM
HGNC 7652 HGNC
Ensembl ENSG00000104320 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 2021-11-11 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2023-07-28 criteria provided, single submitter Microcephaly, normal intelligence and immunodeficiency germline Detail
Likely pathogenic 2022-12-14 criteria provided, single submitter aplastic anemia unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002485.5(NBN):c.1397+2T>A AND not provided ClinVar Detail
NM_002485.5(NBN):c.1397+2T>A AND Microcephaly, normal intelligence and immunodeficiency ClinVar Detail
NM_002485.5(NBN):c.1397+2T>A AND Aplastic anemia ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs730881850 dbSNP
Genome
hg19
Position
chr8:90,967,509-90,967,509
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser