Full data view for gene FAM102A

Information The variants shown are described using the NM_001035254.2 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.298-490T>G r.(=) p.(=) Both (homozygous) - VUS g.130713308A>C g.127951029A>C - - FAM102A_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.864G>A r.(?) p.(Pro288=) Unknown - likely benign g.130707699C>T g.127945420C>T FAM102A(NM_001035254.3):c.864G>A (p.P288=) - FAM102A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*7428T>C r.(=) p.(=) Unknown - benign g.130698043A>G g.127935764A>G DPM2(NM_003863.3):c.213T>C (p.Y71=) - DPM2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*7428T>C r.(=) p.(=) Unknown - benign g.130698043A>G g.127935764A>G DPM2(NM_003863.3):c.213T>C (p.Y71=) - DPM2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*7442C>G r.(=) p.(=) Unknown - benign g.130698029G>C g.127935750G>C DPM2(NM_003863.3):c.227C>G (p.T76S) - DPM2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*7442C>G r.(=) p.(=) Unknown - benign g.130698029G>C g.127935750G>C DPM2(NM_003863.3):c.227C>G (p.T76S) - DPM2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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