C5561944[trait identifier] AND "3billion"[submitter] - 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 1184252	NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter)	LTBP1 (Q448* +1 more)	Single nucleotide variant (nonsense)	Cutis laxa, autosomal recessive, type 2E	GLikely pathogenic
Select item 1320250	NM_206943.4(LTBP1):c.4793_4794del (p.Glu1598fs)	LTBP1 (E1087fs +21 more)	Deletion (frameshift variant)	Cutis laxa, autosomal recessive, type 2E	GLikely pathogenic