Unique variants in gene ZFR2

Information The variants shown are described using the NM_015174.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/. 1 - c.133G>A r.(?) p.(Val45Met) - likely pathogenic g.3834902C>T g.3834904C>T - - ZFR2_000001 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - Germline - - - - - Nirmal Vadgama
-?/. 1 - c.2154T>G r.(?) p.(Ile718Met) - likely benign g.3813906A>C g.3813908A>C ZFR2(NM_015174.1):c.2154T>G (p.(Ile718Met)) - ZFR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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