chr8:89953500:G>T Detail (hg38) (NBN)

Information

Genome

Assembly Position
hg19 chr8:90,965,728-90,965,728 View the variant detail on this assembly version.
hg38 chr8:89,953,500-89,953,500

HGVS

Type Transcript Protein
RefSeq NM_002485.4:c.1589C>A NP_002476.2:p.Ser530Tyr
NM_001024688.2:c.1343C>A NP_001019859.1:p.Ser448Tyr
Ensemble ENST00000265433.8:c.1589C>A ENST00000265433.8:p.Ser530Tyr
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 602667 OMIM
HGNC 7652 HGNC
Ensembl ENSG00000104320 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6722459 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2019-08-30 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-11-14 criteria provided, single submitter Microcephaly, normal intelligence and immunodeficiency germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_002485.5(NBN):c.1589C>A (p.Ser530Tyr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_002485.5(NBN):c.1589C>A (p.Ser530Tyr) AND Microcephaly, normal intelligence and immunodeficiency 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
hg38
Position
chr8:89,953,500-89,953,500
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser