Full data view for gene NTRK1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_002529.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 15 c.1810C>T - r.(?) p.(His604Tyr) Unknown g.156848918C>T g.156879126C>T - - NTRK1_000163 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 15 c.1810C>T - r.(?) p.(His604Tyr) Unknown g.156848918C>T g.156879126C>T - - NTRK1_000163 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 15 c.1810C>T - r.(?) p.(His604Tyr) Both (homozygous) g.156848918C>T g.156879126C>T - - NTRK1_000163 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
-/. - c.1810C>T benign r.(?) p.(His604Tyr) Unknown g.156848918C>T - NTRK1(NM_002529.3):c.1810C>T (p.H604Y) - NTRK1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1810C>T benign r.(?) p.(His604Tyr) Unknown g.156848918C>T - NTRK1(NM_002529.3):c.1810C>T (p.H604Y) - NTRK1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1810C>T likely benign r.(?) p.(His604Tyr) Unknown g.156848918C>T - NTRK1(NM_002529.3):c.1810C>T (p.H604Y) - NTRK1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1810C>T benign r.(?) p.(His604Tyr) Unknown g.156848918C>T - NTRK1(NM_002529.3):c.1810C>T (p.H604Y) - NTRK1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1810C>T benign r.(?) p.(His604Tyr) Both (homozygous) g.156848918C>T - H598Y - NTRK1_000163 - PubMed: Houlden 2001 - rs6336 Germline no - - 0 - DNA SEQ - - CIPA 11310631-PatV2 PubMed: Houlden 2001 5-generation family, 1 affected, unaffected carriers M yes Pakistan - - 0 - - 1 Johan den Dunnen
?/. - c.1810C>T VUS r.(?) p.(His604Tyr) Maternal (confirmed) g.156848918C>T - 1876C>T (H598Y) - NTRK1_000163 - PubMed: Bodzioch 2000 - rs6336 Germline yes - - 0 - DNA PCR, SEQ - - CIPA 11139246-Pat PubMed: Bodzioch 2000 3-generation family, 1 affected M - Poland - - 0 - - 1 Peikuan Cong
?/. - c.1810C>T VUS r.(?) p.(His604Tyr) Maternal (confirmed) g.156848918C>T - 1876C>T (H598Y) - NTRK1_000163 - PubMed: Bodzioch 2000 - rs6336 Germline yes - - 0 - DNA PCR, SEQ - - CIPA 11139246-Pat PubMed: Bodzioch 2000 3-generation family, 1 affected M - Poland - - 0 - - 1 Peikuan Cong
?/. - c.1810C>T VUS r.(?) p.(His604Tyr) Both (homozygous) g.156848918C>T - 1876C>T (His598Tyr) - NTRK1_000163 - PubMed: Mardy 1999, OMIM:var0005 - rs6336 Germline yes - - 0 - DNA SEQ - - CIPA 10330344-KI106 PubMed: Mardy 1999 2-generation family, 1 affected, unaffected carrier parents F yes Italy - - 0 - - 1 Peikuan Cong
-/. - c.1810C>T benign r.(?) p.(His604Tyr) Unknown g.156848918C>T - 1876C>T - NTRK1_000163 - PubMed: Bodzioch 2000 - rs6336 Germline no 12/200 chromosomes - 0 - DNA SEQ - - ? 11139246-con PubMed: Bodzioch 2000 - - - Germany - - 0 - - 12 Johan den Dunnen
-/. - c.1810C>T benign r.(?) p.(His604Tyr) Parent #1 g.156848918C>T - H598Y - NTRK1_000163 including 1 homozygote PubMed: Houlden 2001 - rs6336 Germline no 18/220 chromosomes - 0 - DNA SEQ - - ? 11310631-con PubMed: Houlden 2001 - - - - - - 0 - - 18 Johan den Dunnen
-/. - c.1810C>T benign r.(?) p.(His604Tyr) Unknown g.156848918C>T - - - NTRK1_000163 - PubMed: Verpoorten 2005 - rs6336 Germline no - - 0 - DNA SEQ - - ? 16373092-con PubMed: Verpoorten 2005 - - no Belgium - - 0 - - 1 Johan den Dunnen
+?/. - c.1810C>T likely pathogenic r.(?) p.(His604Tyr) Unknown g.156848918C>T - 1810C>T - NTRK1_000163 - PubMed: Lipska 2009 - rs6336 Germline no - - 0 - DNA DHPLC, SEQ - - ? 20003389-Pat PubMed: Lipska 2009 - - - Poland;Italy - - 0 - - 1 Johan den Dunnen
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