GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 Detail (hg19) (NAT1, NAT2, ADRA1A, ASAH1, ATP6V1B2, BLK, BMP1, POLR3D, BNIP3L, CTSB, DPYSL2, EGR3, DMTN, FDFT1, FGL1, GATA4, GFRA2, GNRH1, LOXL2, LPL, MSR1, MSRA, NEFM, NEFL, NKX3-1, PCM1, PDGFRL, PPP2R2A, PPP3CC, SFTPC, SLC7A2, SLC18A1, STC1, TUSC3, TNKS, ADAM7, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, DOK2, MTMR7, ENTPD4, PHYHIP, SORBS3, NPM2, DLC1, PNMA2, ADAM28, LZTS1, XPO7, RHOBTB2, PSD3, SLC39A14, FGF20, ADAMDEC1, CNOT7, ZDHHC2, SLC25A37, KCTD9, PINX1, PIWIL2, INTS10, CSGALNACT1, HR, BIN3, MTUS1, TRMT9B, CCAR2, SH2D4A, PDLIM2, EBF2, FHIP2B, MTMR9, PPP1R3B, NUDT18, DOCK5, REEP4, SOX7, FAM167A, SLC35G5, FAM86B1, ERI1, LONRF1, CHMP7, RP1L1, VPS37A, NKX2-6, SGCZ, PEBP4, CDCA2, C8orf48, R3HCC1, PRSS55, C8orf74, LGI3, DEFB130A, NEIL2, XKR6, MICU3, PRSS51, USP17L2, USP17L7, MIR124-1, MIR320A, C8orf58, DEFB135, DEFB136, DEFB134, FAM86B2, ZNF705D, ASAH1-AS1)

Information

Genome

Assembly	Position
hg19	chr8:8,770,948-27,079,636
hg38	chr8:8,913,438-27,222,119

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Damaging scores predicted by bioinformatics tools

Neutral Damaging

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Links

Type	Database	ID	Link
Gene	MIM
	HGNC
	Ensembl
	NCBI
	Gene Cards
	OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2018-04-19	no assertion criteria provided	not provided	germline	Detail