Full data view for gene PLAC1

Information The variants shown are described using the NM_021796.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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 at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-47609_*202203del r.0? p.0? Unknown - pathogenic g.133497872_133839837del g.134363842_134705807del - - HPRT1_000008 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.41C>T r.(?) p.(Thr14Ile) Unknown - VUS g.133700672G>A g.134566642G>A PLAC1(NM_021796.4):c.41C>T (p.T14I) - PLAC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146G>C r.(?) p.(Cys49Ser) Unknown - likely benign g.133700567C>G - PLAC1(NM_001316888.1):c.146G>C (p.C49S) - PLAC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.548C>T r.(?) p.(Ala183Val) Unknown - likely benign g.133700165G>A - PLAC1(NM_021796.3):c.548C>T (p.(Ala183Val)) - PLAC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*114A>C r.(=) p.(=) Maternal (inferred) - VUS g.133699960T>G g.134565930T>G - - PLAC1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*114A>C r.(=) p.(=) Maternal (inferred) - VUS g.133699960T>G g.134565930T>G - - PLAC1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
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