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Gene: LOC120095556 (uncharacterized LOC120095556) Rattus norvegicus

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Symbol:

LOC120095556

Name:

uncharacterized LOC120095556

RGD ID:

41049956

Description:

Type:

ncrna

RefSeq Status:

MODEL

Latest Assembly:

GRCr8 - GRCr8 Assembly

Position:

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	11	19,707,950 - 19,728,396 (-)	NCBI		GRCr8
mRatBN7.2	11	6,261,488 - 6,269,975 (-)	NCBI	mRatBN7.2	mRatBN7.2
Cytogenetic Map	11	p12	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Variants in LOC120095556
55 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_032492.4(JAGN1):c.541A>C (p.Lys181Gln)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000543139]\|not provided [RCV004791566]	Chr3:9893366 [GRCh38] Chr3:9935050 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.21G>C (p.Pro7=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000524645]\|not provided [RCV001672863]	Chr3:9890743 [GRCh38] Chr3:9932427 [GRCh37] Chr3:3p25.3	benign
NM_032492.4(JAGN1):c.403G>A (p.Ala135Thr)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000532670]	Chr3:9893228 [GRCh38] Chr3:9934912 [GRCh37] Chr3:3p25.3	benign
GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	copy number loss	See cases [RCV000051447]	Chr3:52266..11089569 [GRCh38] Chr3:93949..11131255 [GRCh37] Chr3:68949..11106255 [NCBI36] Chr3:3p26.3-25.3	pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:8581778-12015238)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]\|See cases [RCV000051480]	Chr3:8581778..12015238 [GRCh38] Chr3:8623464..12056738 [GRCh37] Chr3:8598464..12031738 [NCBI36] Chr3:3p25.3-25.2	pathogenic
GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	copy number loss	See cases [RCV000051481]	Chr3:9393349..9956171 [GRCh38] Chr3:9435033..9997855 [GRCh37] Chr3:9410033..9972855 [NCBI36] Chr3:3p25.3	pathogenic
GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	copy number loss	See cases [RCV000051482]	Chr3:9654297..10228687 [GRCh38] Chr3:9695981..10270371 [GRCh37] Chr3:9670981..10245371 [NCBI36] Chr3:3p25.3	pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	copy number gain	See cases [RCV000051097]	Chr3:52266..37148076 [GRCh38] Chr3:93949..37189567 [GRCh37] Chr3:68949..37164571 [NCBI36] Chr3:3p26.3-22.2	pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3	copy number gain	See cases [RCV000051690]	Chr3:52066..20280127 [GRCh38] Chr3:93749..20321619 [GRCh37] Chr3:68749..20296623 [NCBI36] Chr3:3p26.3-24.3	pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]\|See cases [RCV000051718]	Chr3:52266..29248782 [GRCh38] Chr3:93949..29290273 [GRCh37] Chr3:68949..29265277 [NCBI36] Chr3:3p26.3-24.1	pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	copy number gain	See cases [RCV000051719]	Chr3:63843..19510600 [GRCh38] Chr3:105526..19552092 [GRCh37] Chr3:80526..19527096 [NCBI36] Chr3:3p26.3-24.3	pathogenic
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003586161]\|Severe congenital neutropenia [RCV000170603]	Chr3:9890762 [GRCh38] Chr3:9932446 [GRCh37] Chr3:3p25.3	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_032492.4(JAGN1):c.297C>G (p.Tyr99Ter)	single nucleotide variant	Severe congenital neutropenia [RCV000170604]	Chr3:9893122 [GRCh38] Chr3:9934806 [GRCh37] Chr3:3p25.3	pathogenic
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000144162]\|Severe congenital neutropenia [RCV000170600]\|not provided [RCV001785475]	Chr3:9890725 [GRCh38] Chr3:9932409 [GRCh37] Chr3:3p25.3	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000144163]\|Severe congenital neutropenia [RCV000170602]\|not provided [RCV001092960]	Chr3:9892955 [GRCh38] Chr3:9934639 [GRCh37] Chr3:3p25.3	pathogenic\|uncertain significance
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000144164]\|Severe congenital neutropenia [RCV000170606]\|not provided [RCV001268772]	Chr3:9890785 [GRCh38] Chr3:9932469 [GRCh37] Chr3:3p25.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000144165]\|Severe congenital neutropenia [RCV000170605]	Chr3:9893310 [GRCh38] Chr3:9934994 [GRCh37] Chr3:3p25.3	pathogenic
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)	deletion	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000144166]\|Severe congenital neutropenia [RCV000170607]	Chr3:9890752..9890760 [GRCh38] Chr3:9932436..9932444 [GRCh37] Chr3:3p25.3	pathogenic\|likely benign\|uncertain significance
GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	copy number loss	See cases [RCV000133641]	Chr3:9624696..10039318 [GRCh38] Chr3:9666380..10081002 [GRCh37] Chr3:9641380..10056002 [NCBI36] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002515222]\|Severe congenital neutropenia [RCV000170601]	Chr3:9890781 [GRCh38] Chr3:9932465 [GRCh37] Chr3:3p25.3	pathogenic\|uncertain significance
GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	copy number gain	See cases [RCV000135641]	Chr3:8038727..11240931 [GRCh38] Chr3:8080414..11282617 [GRCh37] Chr3:8055414..11257617 [NCBI36] Chr3:3p26.1-25.3	likely pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	copy number loss	See cases [RCV000137433]	Chr3:9394874..11690612 [GRCh38] Chr3:9436558..11732086 [GRCh37] Chr3:9411558..11707086 [NCBI36] Chr3:3p25.3-25.2	pathogenic
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	copy number gain	See cases [RCV000137309]	Chr3:7975734..12636917 [GRCh38] Chr3:8017421..12678416 [GRCh37] Chr3:7992421..12653416 [NCBI36] Chr3:3p26.1-25.2	likely pathogenic
GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	copy number gain	See cases [RCV000137329]	Chr3:8812036..9953438 [GRCh38] Chr3:8853722..9995122 [GRCh37] Chr3:8828722..9970122 [NCBI36] Chr3:3p25.3	uncertain significance
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	copy number loss	See cases [RCV000138143]	Chr3:32241..12681483 [GRCh38] Chr3:73914..12722982 [GRCh37] Chr3:48914..12697982 [NCBI36] Chr3:3p26.3-25.2	pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	copy number gain	See cases [RCV000138004]	Chr3:32241..30064208 [GRCh38] Chr3:73914..30105699 [GRCh37] Chr3:48914..30080703 [NCBI36] Chr3:3p26.3-24.1	pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	copy number gain	See cases [RCV000137941]	Chr3:32241..20334387 [GRCh38] Chr3:73914..20375879 [GRCh37] Chr3:48914..20350883 [NCBI36] Chr3:3p26.3-24.3	pathogenic
GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	copy number loss	See cases [RCV000137755]	Chr3:9875909..10572677 [GRCh38] Chr3:9917593..10614361 [GRCh37] Chr3:9892593..10589361 [NCBI36] Chr3:3p25.3	pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	copy number loss	See cases [RCV000138376]	Chr3:32241..11379835 [GRCh38] Chr3:73914..11421309 [GRCh37] Chr3:48914..11396309 [NCBI36] Chr3:3p26.3-25.3	pathogenic\|likely benign
GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	copy number gain	See cases [RCV000138535]	Chr3:8941623..10151752 [GRCh38] Chr3:8983307..10193436 [GRCh37] Chr3:8958307..10168436 [NCBI36] Chr3:3p25.3	likely benign\|uncertain significance
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	copy number gain	See cases [RCV000138946]	Chr3:32241..13613818 [GRCh38] Chr3:73914..13655318 [GRCh37] Chr3:48914..13630319 [NCBI36] Chr3:3p26.3-25.1	pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	copy number gain	See cases [RCV000141810]	Chr3:53308..41381521 [GRCh38] Chr3:94991..41423012 [GRCh37] Chr3:69991..41398016 [NCBI36] Chr3:3p26.3-22.1	pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	copy number loss	See cases [RCV000141731]	Chr3:20213..11221602 [GRCh38] Chr3:61891..11263288 [GRCh37] Chr3:36891..11238288 [NCBI36] Chr3:3p26.3-25.3	pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	copy number loss	See cases [RCV000143325]	Chr3:32241..10323124 [GRCh38] Chr3:73914..10364808 [GRCh37] Chr3:48914..10339808 [NCBI36] Chr3:3p26.3-25.3	pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	copy number loss	See cases [RCV000143173]	Chr3:32241..10631310 [GRCh38] Chr3:73914..10672995 [GRCh37] Chr3:48914..10647995 [NCBI36] Chr3:3p26.3-25.3	pathogenic
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	copy number gain	See cases [RCV000143766]	Chr3:7356110..14360442 [GRCh38] Chr3:7397797..14401942 [GRCh37] Chr3:7372797..14376946 [NCBI36] Chr3:3p26.1-25.1	pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	copy number loss	See cases [RCV000143706]	Chr3:688897..11051142 [GRCh38] Chr3:730581..11092828 [GRCh37] Chr3:705581..11067828 [NCBI36] Chr3:3p26.3-25.3	pathogenic
GRCh37/hg19 3p25.3(chr3:9405337-10168892)x3	copy number gain	See cases [RCV000240180]	Chr3:9405337..10168892 [GRCh37] Chr3:3p25.3	likely pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1	copy number loss	See cases [RCV000240139]	Chr3:8922160..12338637 [GRCh37] Chr3:3p25.3-25.2	pathogenic
NM_032492.4(JAGN1):c.499A>G (p.Lys167Glu)	single nucleotide variant	Inborn genetic diseases [RCV003243628]	Chr3:9893324 [GRCh38] Chr3:9935008 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000554378]\|Inborn genetic diseases [RCV002527911]	Chr3:9890757 [GRCh38] Chr3:9932441 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.172G>A (p.Gly58Arg)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000541347]	Chr3:9892997 [GRCh38] Chr3:9934681 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.244A>G (p.Ile82Val)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000539342]\|not provided [RCV004710129]	Chr3:9893069 [GRCh38] Chr3:9934753 [GRCh37] Chr3:3p25.3	benign
NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000556186]	Chr3:9893036 [GRCh38] Chr3:9934720 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p25.3(chr3:9666380-10028247)x1	copy number loss	See cases [RCV000446848]	Chr3:9666380..10028247 [GRCh37] Chr3:3p25.3	pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3	copy number gain	See cases [RCV000447247]	Chr3:61891..24432821 [GRCh37] Chr3:3p26.3-24.2	pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3	copy number gain	See cases [RCV000448528]	Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2	pathogenic
GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)x1	copy number loss	See cases [RCV000448839]	Chr3:6842555..10153209 [GRCh37] Chr3:3p26.1-25.3	pathogenic
GRCh37/hg19 3p25.3(chr3:9920074-9935707)x3	copy number gain	See cases [RCV000448850]	Chr3:9920074..9935707 [GRCh37] Chr3:3p25.3	likely benign
GRCh37/hg19 3p25.3(chr3:9920074-9934813)x3	copy number gain	See cases [RCV000448472]	Chr3:9920074..9934813 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	copy number gain	See cases [RCV000510429]	Chr3:61891..33958201 [GRCh37] Chr3:3p26.3-22.3	pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	copy number gain	See cases [RCV000511463]	Chr3:61891..37459464 [GRCh37] Chr3:3p26.3-22.2	pathogenic
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	copy number loss	See cases [RCV000511155]	Chr3:61891..12575409 [GRCh37] Chr3:3p26.3-25.2	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_032492.4(JAGN1):c.498C>T (p.Ser166=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000652402]	Chr3:9893323 [GRCh38] Chr3:9935007 [GRCh37] Chr3:3p25.3	benign
NM_032492.4(JAGN1):c.270C>T (p.Leu90=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000652403]\|not provided [RCV002292575]	Chr3:9893095 [GRCh38] Chr3:9934779 [GRCh37] Chr3:3p25.3	likely benign
GRCh37/hg19 3p25.3(chr3:9600759-10000398)x3	copy number gain	See cases [RCV000512318]	Chr3:9600759..10000398 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.1A>G (p.Met1Val)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001080874]\|not provided [RCV000513178]	Chr3:9890723 [GRCh38] Chr3:9932407 [GRCh37] Chr3:3p25.3	benign\|likely benign
GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	copy number loss	not provided [RCV000682180]	Chr3:61891..10104842 [GRCh37] Chr3:3p26.3-25.3	pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	copy number gain	not provided [RCV000682215]	Chr3:1897972..19519085 [GRCh37] Chr3:3p26.3-24.3	pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	copy number gain	not provided [RCV000682233]	Chr3:5173870..16760262 [GRCh37] Chr3:3p26.1-24.3	pathogenic
NC_000003.11:g.(?_9932387)_(9935081_?)dup	duplication	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000708379]	Chr3:9890703..9893397 [GRCh38] Chr3:9932387..9935081 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.71C>T (p.Ala24Val)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000700731]\|not provided [RCV004792407]	Chr3:9890793 [GRCh38] Chr3:9932477 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_032492.4(JAGN1):c.39C>T (p.Asp13=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000881726]	Chr3:9890761 [GRCh38] Chr3:9932445 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.179T>C (p.Leu60Pro)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001041481]	Chr3:9893004 [GRCh38] Chr3:9934688 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.280C>G (p.Arg94Gly)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001052707]\|Inborn genetic diseases [RCV004986774]	Chr3:9893105 [GRCh38] Chr3:9934789 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.315C>A (p.Ile105=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000970573]	Chr3:9893140 [GRCh38] Chr3:9934824 [GRCh37] Chr3:3p25.3	benign
NM_032492.4(JAGN1):c.207C>T (p.Ala69=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV005092771]	Chr3:9893032 [GRCh38] Chr3:9934716 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.432C>T (p.Ala144=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001476049]	Chr3:9893257 [GRCh38] Chr3:9934941 [GRCh37] Chr3:3p25.3	likely benign
Single allele	duplication	Neurodevelopmental disorder [RCV000787461]	Chr3:9453917..12015126 [GRCh37] Chr3:3p25.3-25.2	uncertain significance
NM_032492.4(JAGN1):c.433G>A (p.Val145Ile)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000804383]	Chr3:9893258 [GRCh38] Chr3:9934942 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p25.3(chr3:8883205-9954034)x3	copy number gain	not provided [RCV000848799]	Chr3:8883205..9954034 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000824436]\|Inborn genetic diseases [RCV004986643]	Chr3:9890733 [GRCh38] Chr3:9932417 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.46G>T (p.Asp16Tyr)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000815243]	Chr3:9890768 [GRCh38] Chr3:9932452 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.41G>A (p.Gly14Asp)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000803996]	Chr3:9890763 [GRCh38] Chr3:9932447 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.64C>T (p.Arg22Cys)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001043310]\|Inborn genetic diseases [RCV004986749]	Chr3:9890786 [GRCh38] Chr3:9932470 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.379C>T (p.Gln127Ter)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001209423]	Chr3:9893204 [GRCh38] Chr3:9934888 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.70_76del (p.Ala24fs)	deletion	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001218703]	Chr3:9890791..9890797 [GRCh38] Chr3:9932475..9932481 [GRCh37] Chr3:3p25.3	uncertain significance
NC_000003.12:g.9890289C>T	single nucleotide variant	not provided [RCV001671872]	Chr3:9890289 [GRCh38] Chr3:9931973 [GRCh37] Chr3:3p25.3	benign
NM_032492.4(JAGN1):c.330_331del (p.Ser111fs)	deletion	not provided [RCV001531558]	Chr3:9893153..9893154 [GRCh38] Chr3:9934837..9934838 [GRCh37] Chr3:3p25.3	likely pathogenic
NM_032492.4(JAGN1):c.538AAG[1] (p.Lys181del)	microsatellite	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001046664]	Chr3:9893361..9893363 [GRCh38] Chr3:9935045..9935047 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.90T>C (p.Ser30=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001241348]\|Inborn genetic diseases [RCV003373083]	Chr3:9892915 [GRCh38] Chr3:9934599 [GRCh37] Chr3:3p25.3	likely benign\|uncertain significance
NM_032492.4(JAGN1):c.279C>T (p.Pro93=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV000912820]	Chr3:9893104 [GRCh38] Chr3:9934788 [GRCh37] Chr3:3p25.3	likely benign
GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	copy number gain	not provided [RCV002468435]	Chr3:60931..10687964 [GRCh37] Chr3:3p26.3-25.3	pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	copy number loss	not provided [RCV001007530]	Chr3:61891..10287825 [GRCh37] Chr3:3p26.3-25.3	pathogenic
NM_032492.4(JAGN1):c.90-171T>C	single nucleotide variant	not provided [RCV001683936]	Chr3:9892744 [GRCh38] Chr3:9934428 [GRCh37] Chr3:3p25.3	benign
NM_032492.4(JAGN1):c.-70G>C	single nucleotide variant	not provided [RCV001594523]	Chr3:9890653 [GRCh38] Chr3:9932337 [GRCh37] Chr3:3p25.3	benign
NC_000003.12:g.(?_9890703)_(9933613_?)dup	duplication	Candidiasis, familial, 9 [RCV001033307]	Chr3:9932387..9975297 [GRCh37] Chr3:3p25.3	uncertain significance
NC_000003.12:g.9890428C>T	single nucleotide variant	not provided [RCV001685296]	Chr3:9890428 [GRCh38] Chr3:9932112 [GRCh37] Chr3:3p25.3	benign
NM_032492.4(JAGN1):c.*202A>G	single nucleotide variant	not provided [RCV001681156]	Chr3:9893579 [GRCh38] Chr3:9935263 [GRCh37] Chr3:3p25.3	benign
NC_000003.12:g.(?_9701780)_(9944589_?)dup	duplication	Atrioventricular septal defect, susceptibility to, 2 [RCV001031368]	Chr3:9743464..9986273 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.392G>A (p.Arg131His)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001050495]\|Inborn genetic diseases [RCV004629424]	Chr3:9893217 [GRCh38] Chr3:9934901 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.394C>T (p.His132Tyr)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001063968]	Chr3:9893219 [GRCh38] Chr3:9934903 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.542A>G (p.Lys181Arg)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001907614]	Chr3:9893367 [GRCh38] Chr3:9935051 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.56A>G (p.His19Arg)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001214271]	Chr3:9890778 [GRCh38] Chr3:9932462 [GRCh37] Chr3:3p25.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_032492.4(JAGN1):c.258_259del (p.Leu87fs)	microsatellite	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002568464]\|not provided [RCV001572309]	Chr3:9893077..9893078 [GRCh38] Chr3:9934761..9934762 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.346A>G (p.Ile116Val)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001303464]	Chr3:9893171 [GRCh38] Chr3:9934855 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.9_10insG (p.Arg4fs)	insertion	Severe congenital neutropenia 6, autosomal recessive [RCV001333338]	Chr3:9890731..9890732 [GRCh38] Chr3:9932415..9932416 [GRCh37] Chr3:3p25.3	pathogenic
NM_032492.4(JAGN1):c.517T>A (p.Trp173Arg)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001317053]	Chr3:9893342 [GRCh38] Chr3:9935026 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.503A>G (p.Lys168Arg)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001299260]	Chr3:9893328 [GRCh38] Chr3:9935012 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.12A>G (p.Arg4=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001392816]	Chr3:9890734 [GRCh38] Chr3:9932418 [GRCh37] Chr3:3p25.3	likely benign
NC_000003.11:g.(?_9932387)_(9935081_?)del	deletion	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001360822]	Chr3:9932387..9935081 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.43A>G (p.Ser15Gly)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001364704]	Chr3:9890765 [GRCh38] Chr3:9932449 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.205G>A (p.Ala69Thr)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001352008]	Chr3:9893030 [GRCh38] Chr3:9934714 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.127G>A (p.Val43Ile)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001320621]\|Inborn genetic diseases [RCV002543804]	Chr3:9892952 [GRCh38] Chr3:9934636 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.211C>T (p.Pro71Ser)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001306885]\|not provided [RCV002223297]\|not specified [RCV004596439]	Chr3:9893036 [GRCh38] Chr3:9934720 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.89+4T>C	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001366515]\|JAGN1-related disorder [RCV003953691]	Chr3:9890815 [GRCh38] Chr3:9932499 [GRCh37] Chr3:3p25.3	likely benign\|uncertain significance
NM_032492.4(JAGN1):c.317G>A (p.Ser106Asn)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001309272]	Chr3:9893142 [GRCh38] Chr3:9934826 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.30C>T (p.Ala10=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001414176]	Chr3:9890752 [GRCh38] Chr3:9932436 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.77A>T (p.His26Leu)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001369976]	Chr3:9890799 [GRCh38] Chr3:9932483 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.90-20C>T	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001519950]	Chr3:9892895 [GRCh38] Chr3:9934579 [GRCh37] Chr3:3p25.3	benign
NM_032492.4(JAGN1):c.27G>A (p.Ala9=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001497551]	Chr3:9890749 [GRCh38] Chr3:9932433 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.57C>T (p.His19=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001467308]\|not provided [RCV002292640]	Chr3:9890779 [GRCh38] Chr3:9932463 [GRCh37] Chr3:3p25.3	likely benign
NC_000003.12:g.9890463C>T	single nucleotide variant	not provided [RCV001653203]	Chr3:9890463 [GRCh38] Chr3:9932147 [GRCh37] Chr3:3p25.3	benign
NM_032492.4(JAGN1):c.96T>C (p.Thr32=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001519694]\|not provided [RCV001712934]	Chr3:9892921 [GRCh38] Chr3:9934605 [GRCh37] Chr3:3p25.3	benign
NM_032492.4(JAGN1):c.120G>A (p.Leu40=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001469414]	Chr3:9892945 [GRCh38] Chr3:9934629 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.186C>G (p.Leu62=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001425308]	Chr3:9893011 [GRCh38] Chr3:9934695 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.52C>A (p.Gln18Lys)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001461676]	Chr3:9890774 [GRCh38] Chr3:9932458 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.168C>T (p.Ser56=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001441404]	Chr3:9892993 [GRCh38] Chr3:9934677 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.330T>C (p.Phe110=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001441473]	Chr3:9893155 [GRCh38] Chr3:9934839 [GRCh37] Chr3:3p25.3	likely benign
GRCh37/hg19 3p25.3(chr3:9501646-9991928)x4	copy number gain	not provided [RCV001795849]	Chr3:9501646..9991928 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	copy number gain	not specified [RCV002053299]	Chr3:61891..24432821 [GRCh37] Chr3:3p26.3-24.2	pathogenic
NM_032492.4(JAGN1):c.443T>C (p.Met148Thr)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002025859]	Chr3:9893268 [GRCh38] Chr3:9934952 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	copy number gain	not specified [RCV002053300]	Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2	pathogenic
NM_032492.4(JAGN1):c.124T>C (p.Tyr42His)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002023264]	Chr3:9892949 [GRCh38] Chr3:9934633 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p25.3(chr3:9754611-10295828)	copy number gain	not specified [RCV002053329]	Chr3:9754611..10295828 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.163A>T (p.Met55Leu)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002003421]	Chr3:9892988 [GRCh38] Chr3:9934672 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.334A>G (p.Ile112Val)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001913823]	Chr3:9893159 [GRCh38] Chr3:9934843 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.496A>T (p.Ser166Cys)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001908911]	Chr3:9893321 [GRCh38] Chr3:9935005 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	copy number loss	not specified [RCV002053327]	Chr3:6842555..10153209 [GRCh37] Chr3:3p26.1-25.3	pathogenic
NM_032492.4(JAGN1):c.193C>T (p.His65Tyr)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002022071]	Chr3:9893018 [GRCh38] Chr3:9934702 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.389A>G (p.Tyr130Cys)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001961997]	Chr3:9893214 [GRCh38] Chr3:9934898 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.184C>T (p.Leu62Phe)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001897076]	Chr3:9893009 [GRCh38] Chr3:9934693 [GRCh37] Chr3:3p25.3	uncertain significance
NC_000003.11:g.(?_9908818)_(10191649_?)dup	duplication	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001919133]\|Candidiasis, familial, 9 [RCV001923322]	Chr3:9908818..10191649 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.260T>C (p.Leu87Ser)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002012963]	Chr3:9893085 [GRCh38] Chr3:9934769 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.111C>G (p.Ile37Met)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001899507]	Chr3:9892936 [GRCh38] Chr3:9934620 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.522C>G (p.Phe174Leu)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001932818]\|Inborn genetic diseases [RCV002554357]	Chr3:9893347 [GRCh38] Chr3:9935031 [GRCh37] Chr3:3p25.3	uncertain significance
NC_000003.11:g.(?_7782024)_(11078652_?)dup	duplication	Atrioventricular septal defect, susceptibility to, 2 [RCV001875165]	Chr3:7782024..11078652 [GRCh37] Chr3:3p26.1-25.3	uncertain significance
NC_000003.11:g.(?_8775563)_(9986075_?)dup	duplication	Long QT syndrome [RCV001923348]	Chr3:8775563..9986075 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.421G>C (p.Gly141Arg)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001884474]	Chr3:9893246 [GRCh38] Chr3:9934930 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.319A>G (p.Met107Val)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001980642]	Chr3:9893144 [GRCh38] Chr3:9934828 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.11G>T (p.Arg4Leu)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001993442]	Chr3:9890733 [GRCh38] Chr3:9932417 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.145C>G (p.Leu49Val)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001991193]	Chr3:9892970 [GRCh38] Chr3:9934654 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.519G>T (p.Trp173Cys)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001877003]	Chr3:9893344 [GRCh38] Chr3:9935028 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.90-19C>T	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002168751]	Chr3:9892896 [GRCh38] Chr3:9934580 [GRCh37] Chr3:3p25.3	benign
NM_032492.4(JAGN1):c.480C>T (p.Ala160=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002130470]	Chr3:9893305 [GRCh38] Chr3:9934989 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.336C>T (p.Ile112=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002112405]\|JAGN1-related disorder [RCV003923574]	Chr3:9893161 [GRCh38] Chr3:9934845 [GRCh37] Chr3:3p25.3	benign\|likely benign
NM_032492.4(JAGN1):c.123C>A (p.Ile41=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002208212]	Chr3:9892948 [GRCh38] Chr3:9934632 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.117G>A (p.Lys39=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002116473]	Chr3:9892942 [GRCh38] Chr3:9934626 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.189G>A (p.Leu63=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002212128]	Chr3:9893014 [GRCh38] Chr3:9934698 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.159T>C (p.Ala53=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002075203]	Chr3:9892984 [GRCh38] Chr3:9934668 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.90-18C>G	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002198007]	Chr3:9892897 [GRCh38] Chr3:9934581 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.*9T>C	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002272695]	Chr3:9893386 [GRCh38] Chr3:9935070 [GRCh37] Chr3:3p25.3	benign
NM_032492.4(JAGN1):c.138C>T (p.Val46=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002201759]	Chr3:9892963 [GRCh38] Chr3:9934647 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.90-9G>C	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002120412]	Chr3:9892906 [GRCh38] Chr3:9934590 [GRCh37] Chr3:3p25.3	likely benign
NC_000003.11:g.(?_9908818)_(10085568_?)del	deletion	Candidiasis, familial, 9 [RCV003113760]	Chr3:9908818..10085568 [GRCh37] Chr3:3p25.3	uncertain significance
NC_000003.11:g.(?_9908818)_(9932515_?)dup	duplication	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003122873]	Chr3:9908818..9932515 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.142T>C (p.Trp48Arg)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003131288]	Chr3:9892967 [GRCh38] Chr3:9934651 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.37G>A (p.Asp13Asn)	single nucleotide variant	not provided [RCV002265213]	Chr3:9890759 [GRCh38] Chr3:9932443 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p25.3(chr3:9908803-10265564)x3	copy number gain	not provided [RCV002472595]	Chr3:9908803..10265564 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	copy number loss	not provided [RCV002473616]	Chr3:61892..11679509 [GRCh37] Chr3:3p26.3-25.3	pathogenic
GRCh37/hg19 3p25.3(chr3:9754612-10295828)x3	copy number gain	not provided [RCV002472444]	Chr3:9754612..10295828 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.419T>G (p.Phe140Cys)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002903405]	Chr3:9893244 [GRCh38] Chr3:9934928 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.90-16C>T	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002615846]	Chr3:9892899 [GRCh38] Chr3:9934583 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.89+1G>A	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002994274]	Chr3:9890812 [GRCh38] Chr3:9932496 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.89G>A (p.Ser30Asn)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002730442]	Chr3:9890811 [GRCh38] Chr3:9932495 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.313A>G (p.Ile105Val)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002780491]	Chr3:9893138 [GRCh38] Chr3:9934822 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.74T>C (p.Met25Thr)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002979283]\|not provided [RCV004790298]	Chr3:9890796 [GRCh38] Chr3:9932480 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.36C>G (p.Thr12=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003078804]	Chr3:9890758 [GRCh38] Chr3:9932442 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.505C>T (p.Leu169Phe)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003038868]	Chr3:9893330 [GRCh38] Chr3:9935014 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.89+15G>T	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002741782]	Chr3:9890826 [GRCh38] Chr3:9932510 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.102G>A (p.Lys34=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002958408]\|JAGN1-related disorder [RCV003963480]	Chr3:9892927 [GRCh38] Chr3:9934611 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.420del (p.Phe140fs)	deletion	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002640711]	Chr3:9893243 [GRCh38] Chr3:9934927 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.90-13C>G	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002811145]	Chr3:9892902 [GRCh38] Chr3:9934586 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.24_60del (p.Ala9fs)	deletion	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003061918]	Chr3:9890745..9890781 [GRCh38] Chr3:9932429..9932465 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.250C>G (p.Pro84Ala)	single nucleotide variant	Inborn genetic diseases [RCV002703055]	Chr3:9893075 [GRCh38] Chr3:9934759 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.525C>G (p.Thr175=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002833295]	Chr3:9893350 [GRCh38] Chr3:9935034 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.126C>T (p.Tyr42=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003068271]	Chr3:9892951 [GRCh38] Chr3:9934635 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.259_260del (p.Leu87fs)	deletion	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002611040]	Chr3:9893084..9893085 [GRCh38] Chr3:9934768..9934769 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.264C>T (p.Gly88=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002585182]	Chr3:9893089 [GRCh38] Chr3:9934773 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.215A>G (p.Tyr72Cys)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002942213]	Chr3:9893040 [GRCh38] Chr3:9934724 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.327C>G (p.Leu109=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV002610543]	Chr3:9893152 [GRCh38] Chr3:9934836 [GRCh37] Chr3:3p25.3	likely benign
GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	copy number loss	3p- syndrome [RCV003330127]	Chr3:3691505..9917651 [GRCh37] Chr3:3p26.2-25.3	pathogenic
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	copy number gain	not provided [RCV003484107]	Chr3:310747..28297447 [GRCh37] Chr3:3p26.3-24.1	pathogenic
GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	copy number gain	not provided [RCV003484118]	Chr3:9655252..10332544 [GRCh37] Chr3:3p25.3	uncertain significance
Single allele	deletion	not provided [RCV003448703]	Chr3:61435..9944653 [GRCh37] Chr3:3p26.3-25.3	pathogenic
NM_032492.4(JAGN1):c.540G>A (p.Lys180=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003748957]	Chr3:9893365 [GRCh38] Chr3:9935049 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.310A>G (p.Met104Val)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003750093]	Chr3:9893135 [GRCh38] Chr3:9934819 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.51T>G (p.Phe17Leu)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003859024]	Chr3:9890773 [GRCh38] Chr3:9932457 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.339T>C (p.Ala113=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003587117]	Chr3:9893164 [GRCh38] Chr3:9934848 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.354C>T (p.Gly118=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003748133]	Chr3:9893179 [GRCh38] Chr3:9934863 [GRCh37] Chr3:3p25.3	likely benign
GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	copy number loss	not specified [RCV003986402]	Chr3:6306331..11468530 [GRCh37] Chr3:3p26.1-25.3	pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	copy number gain	not specified [RCV003986437]	Chr3:61891..33946644 [GRCh37] Chr3:3p26.3-22.3	pathogenic
NM_032492.4(JAGN1):c.295T>A (p.Tyr99Asn)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003748651]	Chr3:9893120 [GRCh38] Chr3:9934804 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.78C>T (p.His26=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003748721]	Chr3:9890800 [GRCh38] Chr3:9932484 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.268C>T (p.Leu90Phe)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV003587720]	Chr3:9893093 [GRCh38] Chr3:9934777 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.*9T>G	single nucleotide variant	JAGN1-related disorder [RCV003959470]	Chr3:9893386 [GRCh38] Chr3:9935070 [GRCh37] Chr3:3p25.3	likely benign
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	copy number gain	not provided [RCV004577500]	Chr3:60000..34461438 [GRCh37] Chr3:3p26.3-22.3	pathogenic
NM_032492.4(JAGN1):c.251C>G (p.Pro84Arg)	single nucleotide variant	Inborn genetic diseases [RCV004401068]	Chr3:9893076 [GRCh38] Chr3:9934760 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.35C>G (p.Thr12Ser)	single nucleotide variant	Inborn genetic diseases [RCV004401069]	Chr3:9890757 [GRCh38] Chr3:9932441 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.475C>T (p.His159Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004401071]	Chr3:9893300 [GRCh38] Chr3:9934984 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.409C>T (p.Arg137Cys)	single nucleotide variant	Inborn genetic diseases [RCV004401070]	Chr3:9893234 [GRCh38] Chr3:9934918 [GRCh37] Chr3:3p25.3	uncertain significance
NC_000003.11:g.(?_9703931)_(11078652_?)del	deletion	Epilepsy with myoclonic atonic seizures [RCV005059562]	Chr3:9703931..11078652 [GRCh37] Chr3:3p25.3	pathogenic
NC_000003.11:g.(?_9470623)_(11078652_?)dup	duplication	not provided [RCV004582249]	Chr3:9470623..11078652 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.230C>T (p.Pro77Leu)	single nucleotide variant	Inborn genetic diseases [RCV004635705]	Chr3:9893055 [GRCh38] Chr3:9934739 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.439A>C (p.Ile147Leu)	single nucleotide variant	Inborn genetic diseases [RCV004626516]	Chr3:9893264 [GRCh38] Chr3:9934948 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.252C>G (p.Pro84=)	single nucleotide variant	JAGN1-related disorder [RCV004759046]	Chr3:9893077 [GRCh38] Chr3:9934761 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.95C>T (p.Thr32Ile)	single nucleotide variant	Inborn genetic diseases [RCV004989601]	Chr3:9892920 [GRCh38] Chr3:9934604 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.263G>A (p.Gly88Asp)	single nucleotide variant	Inborn genetic diseases [RCV004989602]	Chr3:9893088 [GRCh38] Chr3:9934772 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p25.3(chr3:9503081-10315429)x3	copy number gain	not provided [RCV004819459]	Chr3:9503081..10315429 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.105T>C (p.Tyr35=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV005136188]	Chr3:9892930 [GRCh38] Chr3:9934614 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.495C>T (p.Tyr165=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV005121212]	Chr3:9893320 [GRCh38] Chr3:9935004 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.270C>G (p.Leu90=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV005130682]	Chr3:9893095 [GRCh38] Chr3:9934779 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.438C>T (p.Ser146=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV005145790]	Chr3:9893263 [GRCh38] Chr3:9934947 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.551G>A (p.Ter184=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV005152233]	Chr3:9893376 [GRCh38] Chr3:9935060 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.391C>T (p.Arg131Cys)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV005078400]	Chr3:9893216 [GRCh38] Chr3:9934900 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.228C>T (p.Tyr76=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV005195029]	Chr3:9893053 [GRCh38] Chr3:9934737 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.89+20G>T	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV005196155]	Chr3:9890831 [GRCh38] Chr3:9932515 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.89+5G>A	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV005076795]	Chr3:9890816 [GRCh38] Chr3:9932500 [GRCh37] Chr3:3p25.3	uncertain significance
NM_032492.4(JAGN1):c.231G>A (p.Pro77=)	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV005150485]	Chr3:9893056 [GRCh38] Chr3:9934740 [GRCh37] Chr3:3p25.3	likely benign
NM_032492.4(JAGN1):c.90-4A>G	single nucleotide variant	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV005173542]	Chr3:9892911 [GRCh38] Chr3:9934595 [GRCh37] Chr3:3p25.3	likely benign

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1300147	Bp187	Blood pressure QTL 187	3.67		arterial blood pressure trait (VT:2000000)	blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)	11	1	69446234	Rat
1598842	Glom10	Glomerulus QTL 10	3.4		kidney glomerulus morphology trait (VT:0005325)	index of glomerular damage (CMO:0001135)	11	1	35331169	Rat
1558659	Tescar1	Testicular tumor resistance QTL 1	3.9		testis integrity trait (VT:0010572)	percentage of study population developing testis tumors during a period of time (CMO:0001261)	11	1041931	66113562	Rat
634341	Bw121	Body weight QTL 121	3.56		abdominal fat pad mass (VT:1000711)	abdominal fat pad weight (CMO:0000088)	11	1	21836709	Rat

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.


RefSeq Transcripts	XR_005491106	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAXUCZ010000011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

XR_005491106

Type:

NON-CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8	11	19,707,950 - 19,728,396 (-)	NCBI
mRatBN7.2	11	6,261,488 - 6,269,975 (-)	NCBI

Database	Acc Id	Source(s)
BioCyc Gene	G2FUF-22291	BioCyc
NCBI Gene	LOC120095556	ENTREZGENE
PhenoGen	LOC120095556	PhenoGen

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2021-01-27	LOC120095556	uncharacterized LOC120095556			Symbol and Name status set to provisional	70820	PROVISIONAL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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