"Ambry Genetics"[submitter] AND "LOC129929200"[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 3328238	NM_005427.4(TP73):c.862C>T (p.Arg288Trp)	LOC129929200, TP73 (R217W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400595	NM_005427.4(TP73):c.922_924dup (p.His308_Tyr309insHis)	LOC129929200, TP73	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance