"Counsyl"[submitter] AND "INSRR"[gene] - 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 555070	NM_001007792.1(NTRK1):c.24C>A (p.Cys8Ter)	INSRR, NTRK1 (C8*)	Single nucleotide variant (nonsense +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance
Select item 552224	NM_001007792.1(NTRK1):c.33C>A (p.Pro11=)	INSRR, NTRK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary insensitivity to pain with anhidrosis	GUncertain significance