IHH

Indian hedgehog signaling molecule

Summary

This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]

Known Variants223 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs566164413	2:219,919,144	G/A	—	benign
rs746749613	2:219,919,333	C/T	—	uncertain significance
rs956439051	2:219,919,506	C/T	—	uncertain significance
rs886055649	2:219,919,532	C/T	—	uncertain significance
rs776716315	2:219,919,561	C/T	—	uncertain significance
rs1948815728	2:219,919,616	G/A	—	uncertain significance
rs1410529350	2:219,919,629	A/G	—	uncertain significance
rs879320591	2:219,919,662	T/A	—	uncertain significance
rs79195401	2:219,919,681	G/T	—	benign
rs1948816288	2:219,919,683	C/G	—	uncertain significance
rs1948816466	2:219,919,712	C/T	—	uncertain significance
rs773408612	2:219,919,730	C/T	—	uncertain significance
rs3099	2:219,919,754	G/C	—	benign
rs538403599	2:219,919,846	T/A	—	benign
rs552544696	2:219,919,896	C/T	—	uncertain significance
rs76709099	2:219,919,904	C/A	—	benign
rs534566881	2:219,919,916	C/T	—	benign
rs2062760768	2:219,919,939	G/A	—	uncertain significance
rs200216644	2:219,919,943	C/T	—	conflicting classifications of pathogenicity
rs774963881	2:219,919,944	G/A	—	likely benign
rs2469509445	2:219,919,948	A/T	—	uncertain significance
rs1344706805	2:219,919,952	C/T	—	uncertain significance
rs2469509479	2:219,919,964	A/G	—	uncertain significance
rs748831066	2:219,919,971	C/G	—	uncertain significance
rs749026365	2:219,919,988	G/C	—	uncertain significance
rs150661368	2:219,919,996	C/T	—	uncertain significance
rs774000427	2:219,919,997	G/A	—	uncertain significance
rs1399979548	2:219,920,007	C/G	—	uncertain significance
rs2106306909	2:219,920,014	T/C	—	uncertain significance
rs772724697	2:219,920,026	C/T	—	uncertain significance
rs776849799	2:219,920,034	C/T	—	likely benign
rs532767918	2:219,920,035	G/A	—	conflicting classifications of pathogenicity
rs394452	2:219,920,037	A/G	—	benign
rs752807252	2:219,920,038	G/A	—	uncertain significance
rs764058706	2:219,920,047	C/T	—	uncertain significance
rs886055650	2:219,920,064	A/G	—	uncertain significance
rs779911209	2:219,920,067	G/C	—	likely benign
rs778358400	2:219,920,071	C/T	—	uncertain significance
rs763496709	2:219,920,084	A/G	—	uncertain significance
rs2469509880	2:219,920,085	G/A	—	likely benign
rs143959492	2:219,920,114	C/T	—	conflicting classifications of pathogenicity
rs777059543	2:219,920,119	G/A	—	uncertain significance
rs557425123	2:219,920,120	C/T	—	uncertain significance
rs2469509962	2:219,920,126	A/G	—	uncertain significance
rs763156248	2:219,920,127	G/A	—	likely benign
rs2106307025	2:219,920,144	C/T	—	uncertain significance
rs1948821233	2:219,920,153	G/C	—	uncertain significance
rs367575081	2:219,920,173	G/A	—	uncertain significance
rs202042901	2:219,920,178	G/A	—	likely benign
rs370788126	2:219,920,195	C/T	—	uncertain significance
rs76578869	2:219,920,196	G/A	—	benign
rs2469510114	2:219,920,202	A/T	—	likely benign
rs886044074	2:219,920,216	C/T	—	conflicting classifications of pathogenicity
rs781629708	2:219,920,217	G/A	—	likely benign
rs745408084	2:219,920,218	C/G	—	uncertain significance
rs771622789	2:219,920,219	G/A	—	uncertain significance
rs775818911	2:219,920,224	G/A	—	uncertain significance
rs563762011	2:219,920,228	G/C	—	uncertain significance
rs375127107	2:219,920,229	C/A	—	likely benign
rs377518167	2:219,920,232	G/T	—	likely benign
rs759546196	2:219,920,240	C/T	—	uncertain significance
rs1948822341	2:219,920,242	C/A	—	uncertain significance
rs1012327477	2:219,920,249	C/A	—	uncertain significance
rs370302352	2:219,920,250	C/A	—	likely benign
rs752484924	2:219,920,255	C/A	—	uncertain significance
rs758078057	2:219,920,256	G/A	—	benign
rs969196812	2:219,920,288	T/C	—	uncertain significance
rs1295318863	2:219,920,289	G/A	—	likely benign
rs149554120	2:219,920,292	C/T	—	likely benign
rs370408334	2:219,920,293	C/T	—	uncertain significance
rs374817008	2:219,920,294	G/A	—	uncertain significance
rs13415309	2:219,920,299	C/T	—	conflicting classifications of pathogenicity
rs1373609433	2:219,920,303	C/A	—	uncertain significance
rs146055831	2:219,920,307	C/T	—	likely benign
rs140093604	2:219,920,308	G/A	—	conflicting classifications of pathogenicity
rs1257383778	2:219,920,314	G/A	—	uncertain significance
rs1457337975	2:219,920,316	G/A	—	uncertain significance
rs763928869	2:219,920,328	C/T	—	conflicting classifications of pathogenicity
rs776499803	2:219,920,329	G/A	—	uncertain significance
rs2106307226	2:219,920,336	G/A	—	uncertain significance
rs148349850	2:219,920,345	C/T	—	uncertain significance
rs61747697	2:219,920,346	G/A	—	likely benign
rs200792119	2:219,920,349	T/C	—	benign
rs2469510425	2:219,920,350	G/T	—	uncertain significance
rs749777278	2:219,920,356	G/A	—	uncertain significance
rs371913717	2:219,920,362	C/T	—	uncertain significance
rs779327335	2:219,920,363	G/A	—	uncertain significance
rs748379688	2:219,920,366	G/T	—	uncertain significance
rs775340016	2:219,920,374	T/A	—	uncertain significance
rs1212877137	2:219,920,378	G/A	—	conflicting classifications of pathogenicity
rs763862381	2:219,920,385	G/A	—	likely benign
rs755666903	2:219,920,399	C/T	—	uncertain significance
rs76479554	2:219,920,410	T/C	—	benign
rs3731881	2:219,920,412	A/G	—	benign
rs1948824514	2:219,920,417	C/T	—	uncertain significance
rs375254373	2:219,920,418	G/A	—	likely benign
rs771174829	2:219,920,441	C/T	—	uncertain significance
rs533532683	2:219,920,448	G/A	—	likely benign
rs774042639	2:219,920,461	T/G	—	uncertain significance
rs201051352	2:219,920,463	C/T	—	likely benign

Showing 100 of 223 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.