Annotation Detail
Information
- Associated Genes
- NTRK2
- Associated Variants
-
NTRK2 p.Asp258Asn (p.D258N)
(
ENST00000277120.8,
ENST00000304053.11,
ENST00000323115.11,
ENST00000359847.4,
ENST00000376208.6,
ENST00000376213.6,
ENST00000395882.6,
ENST00000685387.1,
ENST00000685720.1,
ENST00000686259.1,
ENST00000686322.1,
ENST00000686324.1,
ENST00000686443.1,
ENST00000686496.1,
ENST00000686542.1,
ENST00000687148.1,
ENST00000687386.1,
ENST00000687596.1,
ENST00000687636.1,
ENST00000688013.1,
ENST00000689301.1,
ENST00000689685.1,
ENST00000689815.1,
ENST00000690281.1,
ENST00000691415.1,
ENST00000691788.1,
ENST00000692181.1,
ENST00000692389.1,
ENST00000692473.1,
ENST00000692506.1,
ENST00000692762.1,
ENST00000692804.1,
ENST00000693109.1,
ENST00000693127.1,
ENST00000693384.1,
ENST00000693539.1 )
NTRK2 p.Asp258Asn (p.D258N) ( ENST00000277120.8, ENST00000304053.11, ENST00000323115.11, ENST00000359847.4, ENST00000376208.6, ENST00000376213.6, ENST00000395882.6, ENST00000685387.1, ENST00000685720.1, ENST00000686259.1, ENST00000686322.1, ENST00000686324.1, ENST00000686443.1, ENST00000686496.1, ENST00000686542.1, ENST00000687148.1, ENST00000687386.1, ENST00000687596.1, ENST00000687636.1, ENST00000688013.1, ENST00000689301.1, ENST00000689685.1, ENST00000689815.1, ENST00000690281.1, ENST00000691415.1, ENST00000691788.1, ENST00000692181.1, ENST00000692389.1, ENST00000692473.1, ENST00000692506.1, ENST00000692762.1, ENST00000692804.1, ENST00000693109.1, ENST00000693127.1, ENST00000693384.1, ENST00000693539.1 ) - Associated Disease
- NTRK2-related disorder
- Source Database
- ClinVar
- Description
- NM_006180.6(NTRK2):c.772G>A (p.Asp258Asn) AND NTRK2-related disorder
- ClinVar Allele ID
- 2004436
- ClinVar RefSeq Alternation Syntax
- NM_001369545.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369539.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369541.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001381928.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369535.1:c.304G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369546.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369549.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369551.1:c.304G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369532.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369542.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001018064.3:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_006180.6:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369536.1:c.304G>A
- ClinVar RefSeq Alternation Syntax
- NM_001018065.2:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001018066.3:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369533.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001007097.3:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369547.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369552.1:c.304G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369537.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369543.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291937.2:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369544.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369550.1:c.304G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369548.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369534.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369538.1:c.772G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369540.1:c.772G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-01-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003898469
- ClinVar Disease
- NTRK2-related disorder
- Observed Origin Sample
- germline
Drugs