C3151442[trait identifier] AND "Johns Hopkins Genomics, Johns Hopkins - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619289	NM_001143992.2(WRAP53):c.807C>T (p.Arg269=)	WRAP53	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 3 +3 more	GBenign/Likely benign
Select item 260997	NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=)	WRAP53	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign