chr9:87339190:G>A Detail (hg19) (NTRK2)

Information

Genome

Assembly Position
hg19 chr9:87,339,190-87,339,190
hg38 chr9:84,724,275-84,724,275 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001018065.2:c.772G>A NP_001018075.1:p.Asp258Asn
NM_001018064.2:c.772G>A NP_001018074.1:p.Asp258Asn
NM_001018066.2:c.772G>A NP_001018076.1:p.Asp258Asn
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 600456 OMIM
HGNC 8032 HGNC
Ensembl ENSG00000148053 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
Uncertain significance 2022-08-22 criteria provided, single submitter not provided germline Detail
Uncertain significance 2024-01-09 criteria provided, single submitter NTRK2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_006180.6(NTRK2):c.772G>A (p.Asp258Asn) AND not provided ClinVar Detail
NM_006180.6(NTRK2):c.772G>A (p.Asp258Asn) AND NTRK2-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
-
Genome
hg19
Position
chr9:87,339,190-87,339,190
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser