Full data view for gene COL2A1

Information The variants shown are described using the NM_001844.4 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
-/. 1i c.85+18C>G r.(=) p.(=) Parent #1 - benign g.48398002G>C g.48004219G>C - - COL2A1_000402 - - - rs3803184 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.85+18C>G r.(=) p.(=) Unknown - benign g.48398002G>C g.48004219G>C COL2A1(NM_001844.4):c.85+18C>G, COL2A1(NM_001844.5):c.85+18C>G - COL2A1_000402 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.85+18C>G r.(=) p.(=) Unknown - benign g.48398002G>C g.48004219G>C COL2A1(NM_001844.4):c.85+18C>G, COL2A1(NM_001844.5):c.85+18C>G - COL2A1_000402 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.85+18C>G r.(=) p.(=) Unknown - benign g.48398002G>C g.48004219G>C COL2A1(NM_001844.4):c.85+18C>G, COL2A1(NM_001844.5):c.85+18C>G - COL2A1_000402 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.85+18C>G r.(=) p.(=) Unknown - benign g.48398002G>C g.48004219G>C COL2A1(NM_001844.4):c.85+18C>G, COL2A1(NM_001844.5):c.85+18C>G - COL2A1_000402 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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