GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 Detail (hg38) (CAMK4, CAST, CCNH, CETN3, CHD1, COX7C, EFNA5, FER, GLRX, LNPEP, MAN2A1, MEF2C, PAM, PCSK1, RASA1, NR2F1, ST8SIA4, SKIC3, PJA2, POLR3G, RHOBTB3, ELL2, PPIP5K2, ERAP1, GIN1, LINC01949, RIOK2, ARRDC3, ERAP2, FBXL17, MCTP1, NUDT12, SPATA9, ARB2A, ADGRV1, SLF1, TSLP, MACIR, SLC25A46, LYSMD3, SLCO6A1, POU5F2, WDR36, MBLAC2, TMEM161B, ARSK, FAM81B, LIX1, LINC01554, KIAA0825, GPR150, LOC285638, RGMB, LINC00491, RFESD, FAM174A, SLCO4C1, MIR9-2, NR2F1-AS1, RGMB-AS1, TMEM232, LOC644285, LOC645261, MIR9-2HG, MIR583, LOC731157, ARRDC3-AS1, LOC100289230, LINC01848, MIR548F3, MIR548P, MIR2277, MIR4280, MIR3660, LINC02059, TMEM161B-DT, LUCAT1, LINC01023, LINC00492, LIX1-AS1, LOC101929380, MEF2C-AS1, LINC01339, LOC101929710, LINC02115, LINC01950, LINC02060, LINC01340, LOC102724637, LOC102724720, CHD1-DT, LINC02113, LINC02144, LOC105379082, LINC01846, LOC105379109, CRE1, SNORD138, MEF2C-AS2, LINC02234, LOC110120605, LOC110120637, LOC110120638, LOC110120640, LOC110120641, LOC110120688, LOC110120699, LOC110120744, LOC110120771, LOC110120789, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121070, LOC110121147, LOC110121176, LOC110121194, LINC02488, LOC112997552, LOC113002595, LOC113002596, LOC114004395, MIR4280HG, LOC121079950, LOC121079951, LOC121079952, LOC121079953, LOC121079954, LOC121079955, FAM174A-DT, LOC121725209, LOC121725210, LOC121725211, LOC121725212, LOC121725213, LOC123497930, LOC123497931, LOC123497932, LOC123497933, LOC123497934, LOC123497935, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC123497940, LOC123497941, LOC123497942, LOC123497943, LOC123497944, LOC123497945, LOC123497946, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, MAN2A1-DT, LOC126807444, LOC126807445, LOC126807446, LOC126807447, LOC126807448, LOC126807449, LOC126807450, LOC126807451, LOC126807452, LOC126807453, LOC126807454, LOC126807455, LOC126807456, LOC126807457, LOC126807458, LOC126807459, LOC126807460, LOC126807461, LOC126807462, LOC126807463, LOC126807464, LOC126807465, LOC126807466, LOC126807467, LOC126807468, LOC126807469, LOC126807470, LOC126807471, LOC126807472, LOC126807473, LOC128772265, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273, LOC129389312, LOC129389313, LOC129389314, LOC129389315, LOC129389316, LOC129389317, LOC129389318, LOC129389319, LOC129389320, LOC129389321, LOC129389322, LOC129389323, LOC129389324, LOC129389325, LOC129389326, LOC129389327, LOC129389328, LOC129389329, LOC129389330, LOC129389331, LOC129389332, LOC129389333, LOC129389334, LOC129389335, LOC129389336, LOC129389337, LOC129389338, LOC129389339, LOC129389340, LOC129389341, LOC129389342, LOC129389343, LOC129994164, LOC129994165, LOC129994166, LOC129994167, LOC129994168, LOC129994169, LOC129994170, LOC129994171, LOC129994172, LOC129994173, LOC129994174, LOC129994175, LOC129994176, LOC129994177, LOC129994178, LOC129994179, LOC129994180, LOC129994181, LOC129994182, LOC129994183, LOC129994184, LOC129994185, LOC129994186, LOC129994187, LOC129994188, LOC129994189, LOC129994190, LOC129994191, LOC129994192, LOC129994193, LOC129994194, LOC129994195, LOC129994196, LOC129994197, LOC129994198, LOC129994199, LOC129994200, LOC129994201, LOC129994202, LOC129994203, LOC129994204, LOC129994205, LOC129994206, LOC129994207, LOC129994208, LOC129994209, LOC129994210, LOC129994211, LOC129994212, LOC129994213, LOC129994214, LOC129994215, LOC129994216, LOC129994217, LOC129994218, LOC129994219, LOC129994220, LOC129994221, LOC129994222, LOC129994223, LOC129994224, LOC129994225, LOC129994226, LOC129994227, LOC129994228, LOC129994229, LOC129994230, LOC129994231, LOC129994232, LOC129994233, LOC129994234, LOC129994235, LOC129994236, LOC129994237, LOC129994238, LOC129994239, LOC129994240, LOC129994241, LOC129994242, LOC129994243, LOC129994244, LOC129994245, LOC129994246, LOC129994247, LOC129994248, LOC129994249, LOC129994250, LOC129994251, LOC129994252, LOC129994253, LOC129994254, LOC129994255, LOC129994256, LOC129994257, LOC129994258, LOC129994259, LOC129994260, LOC129994261, LOC129994262, LOC129994263, LOC129994264, LOC129994265, LOC129994266, LOC129994267, LOC129994268, LOC129994269, LOC129994270, LOC129994271, LOC129994272, LOC129994273, LOC129994274, LOC129994275, LOC129994276, LOC129994277, LOC129994278, LOC129994279, LOC129994280, LOC129994281, LOC129994282, LOC129994283, LOC129994284, LOC129994285, LOC129994286, LOC129994287, LOC129994288, LOC129994289, LOC129994290, LOC129994291, LOC129994292, LOC129994293, LOC129994294, LOC129994295, LOC129994296, LOC129994297, LOC129994298, LOC129994299, LOC129994300, LOC129994301, LOC129994302, LOC129994303, LOC129994304, LOC129994305, LOC129994306, LOC129994307, LOC129994308, LOC129994309, LOC129994310, LOC129994311, LOC129994312, LOC129994313, LOC129994314, LOC129994315, LOC129994316, LOC129994317, LOC129994318, LOC129994319, LOC129994320, LOC129994321, LOC129994322, LOC129994323, LOC129994324, LOC129994325, LOC129994326, LOC129994327, LOC129994328, LOC129994329, LOC129994330, LOC129994331, LOC129994332, LOC129994333, LOC129994334, LOC129994335, LOC129994336, LOC129994337, LOC129994338, LOC129994339, LOC129994340, LOC129994341, LOC129994342, LOC129994343, LOC129994344, LOC129994345, LOC129994346, LOC129994347, LOC129994348, LOC129994349, LOC129994350, LOC129994351, LOC129994352, LOC129994353, LOC129994354, LOC129994355, LOC129994356, LOC129994357, LOC129994358, LOC129994359, LOC132089159, LOC132089160, LOC132089304)

Information

Genome

Assembly Position
hg19 chr5:83,899,398-110,770,779 View the variant detail on this assembly version.
hg38 chr5:84,603,580-111,435,081
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance Pathogenic
Review star
Show details
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.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-06-18 no assertion criteria provided not provided Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 AND See cases ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr5:84,603,580-111,435,081
Variant Type
cnv
Genome browser