"Ambry Genetics"[submitter] AND "LOC126806048"[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 2410259	NM_032324.3(NTPCR):c.511A>G (p.Lys171Glu)	LOC126806048, NTPCR (K171E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205771	NM_032324.3(NTPCR):c.548C>T (p.Thr183Met)	LOC126806048, NTPCR (T113M +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance