All variants in the GDF5 gene

Information The variants shown are described using the NM_000557.2 transcript reference sequence.

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

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     
+/. - c.527T>C r.(?) p.(Leu176Pro) - pathogenic g.34025182A>G g.35437402A>G GDF5(NM_000557.4):c.527T>C (p.L176P) - GDF5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 1 c.527T>C r.(?) p.(Leu176Pro) - pathogenic g.34025182A>G g.35437402A>G - - GDF5_000001 - - - - Germline - - - 0 - Yutaka Shimomura
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