EFCAB10 (EF-hand calcium binding domain 10)

Gene: EFCAB10 (EF-hand calcium binding domain 10) Homo sapiens

Analyze

Symbol:

EFCAB10

Name:

EF-hand calcium binding domain 10

RGD ID:

2301274

HGNC Page

HGNC:34531

Description:

Predicted to enable calcium ion binding activity.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

EF-hand calcium-binding domain-containing protein 10

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Efcab10 (EF-hand calcium binding domain 10)	HGNC	EggNOG, Ensembl, HGNC, Inparanoid, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Efcab10 (EF-hand calcium binding domain 10)	HGNC	EggNOG, Ensembl, Inparanoid, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Pan paniscus (bonobo/pygmy chimpanzee):	EFCAB10 (EF-hand calcium binding domain 10)	NCBI	Ortholog
Canis lupus familiaris (dog):	EFCAB10 (EF-hand calcium binding domain 10)	HGNC	Ensembl, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Efcab10 (EF-hand calcium binding domain 10)	NCBI	Ortholog
Sus scrofa (pig):	PUS7 (pseudouridine synthase 7)	HGNC	Inparanoid, OrthoDB
Chlorocebus sabaeus (green monkey):	EFCAB10 (EF-hand calcium binding domain 10)	NCBI	Ortholog
Other homologs ²
Sus scrofa (pig):	PUS7 (pseudouridine synthase 7)	HGNC	OrthoDB
Sus scrofa (pig):	RINT1 (RAD50 interactor 1)	HGNC	Treefam
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Efcab10 (EF-hand calcium binding domain 10)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Efcab10 (EF-hand calcium binding domain 10)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	si:dkey-42p14.3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	efcab10	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	efcab10.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	105,565,124 - 105,581,493 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	105,565,120 - 105,600,875 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	105,205,571 - 105,221,940 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	104,992,689 - 105,009,177 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	100,010,699 - 100,027,094 (-)	NCBI		Celera
Cytogenetic Map	7	q22.3	NCBI
HuRef	7	99,563,858 - 99,580,241 (-)	NCBI		HuRef
CHM1_1	7	105,138,892 - 105,155,283 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	106,879,330 - 106,895,701 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	104,566,137 - 104,582,536 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

hereditary breast ovarian cancer syndrome (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Infantile Liver Failure Syndrome 3 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

carbon nanotube (ISO)

cisplatin (EXP)

copper atom (ISO)

copper(0) (ISO)

Cuprizon (ISO)

GW 4064 (ISO)

methylmercury chloride (EXP)

mono(2-ethylhexyl) phthalate (ISO)

Monobutylphthalate (ISO)

ozone (ISO)

paracetamol (EXP)

permethrin (EXP)

pirinixic acid (ISO)

propanal (EXP)

titanium dioxide (ISO)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Molecular Function

calcium ion binding (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:12853948	PMID:16344560	PMID:24322204

Genomics

Comparative Map Data

EFCAB10
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	105,565,124 - 105,581,493 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	105,565,120 - 105,600,875 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	105,205,571 - 105,221,940 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	104,992,689 - 105,009,177 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	100,010,699 - 100,027,094 (-)	NCBI		Celera
Cytogenetic Map	7	q22.3	NCBI
HuRef	7	99,563,858 - 99,580,241 (-)	NCBI		HuRef
CHM1_1	7	105,138,892 - 105,155,283 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	106,879,330 - 106,895,701 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	104,566,137 - 104,582,536 (-)	NCBI

Efcab10
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	12	33,444,824 - 33,451,268 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	12	33,444,853 - 33,451,266 (+)	Ensembl		GRCm39 Ensembl
GRCm38	12	33,394,825 - 33,401,269 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	12	33,394,854 - 33,401,267 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	12	34,079,719 - 34,086,134 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	12	33,980,101 - 33,986,516 (+)	NCBI		MGSCv36	mm8
Celera	12	34,839,250 - 34,845,770 (+)	NCBI		Celera
Cytogenetic Map	12	A3	NCBI
cM Map	12	14.34	NCBI

Efcab10
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	55,731,902 - 55,738,821 (+)	NCBI		GRCr8
mRatBN7.2	6	50,004,479 - 50,011,398 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	50,004,479 - 50,011,398 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	50,309,027 - 50,315,996 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	50,623,962 - 50,630,931 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	50,062,942 - 50,069,893 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	52,702,304 - 52,709,223 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	52,702,544 - 52,709,223 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	62,323,316 - 62,330,235 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	51,741,044 - 51,747,963 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	6	51,744,407 - 51,751,089 (+)	NCBI
Celera	6	49,194,412 - 49,201,339 (+)	NCBI		Celera
Cytogenetic Map	6	q16	NCBI

EFCAB10
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	6	142,415,837 - 142,432,528 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	190,685,805 - 190,702,289 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	7	97,556,418 - 97,571,987 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	7	110,285,036 - 110,301,514 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	110,285,036 - 110,301,501 (-)	Ensembl	panpan1.1		panPan2

EFCAB10
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	18	14,833,401 - 14,844,081 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	18	14,833,472 - 14,845,956 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	14,484,482 - 14,495,115 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	15,135,732 - 15,146,558 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	18	15,135,758 - 15,148,449 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	18	14,921,898 - 14,932,520 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	14,844,769 - 14,855,466 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	15,124,870 - 15,135,501 (+)	NCBI		UU_Cfam_GSD_1.0

Efcab10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	57,181,530 - 57,188,497 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936479	18,305,334 - 18,314,449 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936479	18,305,335 - 18,312,252 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PUS7
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	105,419,056 - 105,445,682 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	105,424,408 - 105,445,667 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	116,193,298 - 116,213,600 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

EFCAB10
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	21	74,490,873 - 74,505,942 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666042	29,411,131 - 29,424,270 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in EFCAB10
255 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	copy number gain	See cases [RCV000136717]	Chr7:97419852..158923762 [GRCh38] Chr7:97049164..158716453 [GRCh37] Chr7:96887100..158409214 [NCBI36] Chr7:7q21.3-36.3	pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	copy number loss	See cases [RCV000137522]	Chr7:102196924..121278641 [GRCh38] Chr7:101912320..120918695 [GRCh37] Chr7:101626924..120705931 [NCBI36] Chr7:7q22.1-31.31	pathogenic
GRCh38/hg38 7q22.2-22.3(chr7:104434729-106134635)x3	copy number gain	See cases [RCV000140728]	Chr7:104434729..106134635 [GRCh38] Chr7:104075177..105775081 [GRCh37] Chr7:103862413..105562317 [NCBI36] Chr7:7q22.2-22.3	uncertain significance
GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	copy number loss	See cases [RCV000142628]	Chr7:105575647..107949294 [GRCh38] Chr7:105216094..107589739 [GRCh37] Chr7:105003330..107376975 [NCBI36] Chr7:7q22.3-31.1	uncertain significance
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	copy number loss	See cases [RCV000050924]	Chr7:101807149..112414850 [GRCh38] Chr7:101450429..112054905 [GRCh37] Chr7:101237149..111842141 [NCBI36] Chr7:7q22.1-31.1	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	copy number loss	See cases [RCV000054157]	Chr7:102808199..105701108 [GRCh38] Chr7:102448646..105341555 [GRCh37] Chr7:102235882..105128791 [NCBI36] Chr7:7q22.1-22.3	pathogenic
NM_021930.6(RINT1):c.1978C>A (p.Leu660Ile)	single nucleotide variant	RINT1-related condition [RCV003917858]\|not provided [RCV000210489]\|not specified [RCV004020578]	Chr7:105565368 [GRCh38] Chr7:105205815 [GRCh37] Chr7:7q22.3	benign
NM_021930.6(RINT1):c.2370T>C (p.Thr790=)	single nucleotide variant	RINT1-related condition [RCV003937794]\|not provided [RCV000210528]\|not specified [RCV004020579]	Chr7:105567302 [GRCh38] Chr7:105207749 [GRCh37] Chr7:7q22.3	benign
NM_021930.6(RINT1):c.2276C>T (p.Pro759Leu)	single nucleotide variant	RINT1-related condition [RCV003907782]\|not provided [RCV000210531]\|not specified [RCV001354768]	Chr7:105567208 [GRCh38] Chr7:105207655 [GRCh37] Chr7:7q22.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_021930.6(RINT1):c.1985T>C (p.Leu662Ser)	single nucleotide variant	not provided [RCV000228496]\|not specified [RCV004020859]	Chr7:105565375 [GRCh38] Chr7:105205822 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NM_001355526.2(EFCAB10):c.384-16A>T	single nucleotide variant	RINT1-related condition [RCV003929996]\|not provided [RCV000228602]	Chr7:105565463 [GRCh38] Chr7:105205910 [GRCh37] Chr7:7q22.3	benign
NM_021930.6(RINT1):c.2165G>A (p.Arg722Lys)	single nucleotide variant	not provided [RCV000229275]\|not specified [RCV004020864]	Chr7:105565627 [GRCh38] Chr7:105206074 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NM_021930.6(RINT1):c.2136T>C (p.Leu712=)	single nucleotide variant	RINT1-related condition [RCV003977685]\|not provided [RCV000231442]\|not specified [RCV004020862]	Chr7:105565598 [GRCh38] Chr7:105206045 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2003T>C (p.Phe668Ser)	single nucleotide variant	RINT1-related condition [RCV003929995]\|not provided [RCV000232481]\|not specified [RCV004020860]	Chr7:105565393 [GRCh38] Chr7:105205840 [GRCh37] Chr7:7q22.3	benign
NM_021930.6(RINT1):c.2032C>T (p.Leu678Phe)	single nucleotide variant	not provided [RCV000234204]\|not specified [RCV004020861]	Chr7:105565422 [GRCh38] Chr7:105205869 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2159G>A (p.Cys720Tyr)	single nucleotide variant	not provided [RCV000226424]\|not specified [RCV004020863]	Chr7:105565621 [GRCh38] Chr7:105206068 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NC_000007.14:g.(?_105555022)_(105567316_?)del	deletion	not specified [RCV000258050]	Chr7:105555022..105567316 [GRCh38] Chr7:105195469..105207763 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2126C>T (p.Thr709Ile)	single nucleotide variant	not provided [RCV001325542]\|not specified [RCV004022829]	Chr7:105565588 [GRCh38] Chr7:105206035 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1924A>T (p.Met642Leu)	single nucleotide variant	not provided [RCV001363663]	Chr7:105565314 [GRCh38] Chr7:105205761 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2156A>G (p.Tyr719Cys)	single nucleotide variant	not provided [RCV000464107]\|not specified [RCV004022834]	Chr7:105565618 [GRCh38] Chr7:105206065 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NM_021930.6(RINT1):c.2176T>C (p.Tyr726His)	single nucleotide variant	not provided [RCV000464196]\|not specified [RCV004023052]	Chr7:105565638 [GRCh38] Chr7:105206085 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2149T>G (p.Ser717Ala)	single nucleotide variant	not provided [RCV001322427]\|not specified [RCV004022824]	Chr7:105565611 [GRCh38] Chr7:105206058 [GRCh37] Chr7:7q22.3	uncertain significance
NM_001355526.2(EFCAB10):c.384-23T>G	single nucleotide variant	Infantile liver failure syndrome 3 [RCV001796055]\|not provided [RCV002056699]\|not specified [RCV000454631]	Chr7:105565470 [GRCh38] Chr7:105205917 [GRCh37] Chr7:7q22.3	benign
NM_021930.6(RINT1):c.2187-2A>G	single nucleotide variant	not provided [RCV001346688]	Chr7:105567117 [GRCh38] Chr7:105207564 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2067+6_2067+9del	microsatellite	not provided [RCV000474556]	Chr7:105565456..105565459 [GRCh38] Chr7:105205903..105205906 [GRCh37] Chr7:7q22.3	uncertain significance
NM_001355526.2(EFCAB10):c.384-207G>A	single nucleotide variant	not provided [RCV000474630]	Chr7:105565654 [GRCh38] Chr7:105206101 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2193A>G (p.Lys731=)	single nucleotide variant	not provided [RCV000475791]\|not specified [RCV004023035]	Chr7:105567125 [GRCh38] Chr7:105207572 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2362C>T (p.Pro788Ser)	single nucleotide variant	not provided [RCV001326182]	Chr7:105567294 [GRCh38] Chr7:105207741 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1962G>A (p.Thr654=)	single nucleotide variant	not provided [RCV000476353]\|not specified [RCV004023048]	Chr7:105565352 [GRCh38] Chr7:105205799 [GRCh37] Chr7:7q22.3	benign\|likely benign
NM_021930.6(RINT1):c.1940C>T (p.Ser647Leu)	single nucleotide variant	not provided [RCV000456423]\|not specified [RCV004022826]	Chr7:105565330 [GRCh38] Chr7:105205777 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1981C>G (p.Gln661Glu)	single nucleotide variant	not specified [RCV004331261]	Chr7:105565371 [GRCh38] Chr7:105205818 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1979T>C (p.Leu660Pro)	single nucleotide variant	not specified [RCV004331263]	Chr7:105565369 [GRCh38] Chr7:105205816 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2062C>G (p.Gln688Glu)	single nucleotide variant	not specified [RCV004331272]	Chr7:105565452 [GRCh38] Chr7:105205899 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2074C>A (p.Leu692Ile)	single nucleotide variant	not specified [RCV004331259]	Chr7:105565536 [GRCh38] Chr7:105205983 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2035G>A (p.Val679Ile)	single nucleotide variant	not specified [RCV004331266]	Chr7:105565425 [GRCh38] Chr7:105205872 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2184A>G (p.Lys728=)	single nucleotide variant	not provided [RCV000863052]\|not specified [RCV004029327]	Chr7:105565646 [GRCh38] Chr7:105206093 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2220C>T (p.Asn740=)	single nucleotide variant	not provided [RCV000864970]\|not specified [RCV004027636]	Chr7:105567152 [GRCh38] Chr7:105207599 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2253G>T (p.Leu751=)	single nucleotide variant	not provided [RCV000877702]\|not specified [RCV004027896]	Chr7:105567185 [GRCh38] Chr7:105207632 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2322A>G (p.Gln774=)	single nucleotide variant	not provided [RCV000920984]\|not specified [RCV004029460]	Chr7:105567254 [GRCh38] Chr7:105207701 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2097A>C (p.Gly699=)	single nucleotide variant	not provided [RCV000899134]	Chr7:105565559 [GRCh38] Chr7:105206006 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1902A>G (p.Pro634=)	single nucleotide variant	not provided [RCV000867024]\|not specified [RCV004027689]	Chr7:105565292 [GRCh38] Chr7:105205739 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1910C>T (p.Ser637Leu)	single nucleotide variant	not provided [RCV001050498]\|not specified [RCV004031567]	Chr7:105565300 [GRCh38] Chr7:105205747 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2016A>C (p.Lys672Asn)	single nucleotide variant	not provided [RCV001034723]	Chr7:105565406 [GRCh38] Chr7:105205853 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1961C>T (p.Thr654Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416348]\|not provided [RCV001041309]	Chr7:105565351 [GRCh38] Chr7:105205798 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1950G>A (p.Pro650=)	single nucleotide variant	not provided [RCV000876745]\|not specified [RCV004027880]	Chr7:105565340 [GRCh38] Chr7:105205787 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2361G>A (p.Trp787Ter)	single nucleotide variant	Infantile liver failure syndrome 3 [RCV003141797]\|not provided [RCV000800836]\|not specified [RCV004028039]	Chr7:105567293 [GRCh38] Chr7:105207740 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2352G>C (p.Arg784Ser)	single nucleotide variant	not provided [RCV000800863]\|not specified [RCV004028041]	Chr7:105567284 [GRCh38] Chr7:105207731 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2068A>G (p.Ile690Val)	single nucleotide variant	not provided [RCV000798279]\|not specified [RCV004027950]	Chr7:105565530 [GRCh38] Chr7:105205977 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NM_021930.6(RINT1):c.2219A>T (p.Asn740Ile)	single nucleotide variant	not provided [RCV000797142]\|not specified [RCV004027586]	Chr7:105567151 [GRCh38] Chr7:105207598 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1985_1986insAGAG (p.Gln664fs)	insertion	not provided [RCV000801849]\|not specified [RCV004028077]	Chr7:105565375..105565376 [GRCh38] Chr7:105205822..105205823 [GRCh37] Chr7:7q22.3	pathogenic\|uncertain significance
NM_021930.6(RINT1):c.1952T>G (p.Leu651Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002415921]\|not provided [RCV000818693]	Chr7:105565342 [GRCh38] Chr7:105205789 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2192AAG[1] (p.Glu732del)	microsatellite	not provided [RCV001055741]	Chr7:105567124..105567126 [GRCh38] Chr7:105207571..105207573 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2036T>C (p.Val679Ala)	single nucleotide variant	Hereditary breast ovarian cancer syndrome [RCV001030667]\|Hereditary cancer-predisposing syndrome [RCV002416317]\|not provided [RCV001055631]	Chr7:105565426 [GRCh38] Chr7:105205873 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2280C>T (p.Ala760=)	single nucleotide variant	not provided [RCV000863157]\|not specified [RCV004029328]	Chr7:105567212 [GRCh38] Chr7:105207659 [GRCh37] Chr7:7q22.3	likely benign
NC_000007.13:g.(?_105172753)_(105207768_?)dup	duplication	not provided [RCV000798150]	Chr7:105532306..105567321 [GRCh38] Chr7:105172753..105207768 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2255A>C (p.Gln752Pro)	single nucleotide variant	not provided [RCV000794981]\|not specified [RCV004027511]	Chr7:105567187 [GRCh38] Chr7:105207634 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2346T>C (p.Asn782=)	single nucleotide variant	not provided [RCV000898034]\|not specified [RCV004028482]	Chr7:105567278 [GRCh38] Chr7:105207725 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2129G>A (p.Arg710Gln)	single nucleotide variant	not provided [RCV001060578]\|not specified [RCV004031925]	Chr7:105565591 [GRCh38] Chr7:105206038 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2084A>G (p.His695Arg)	single nucleotide variant	not provided [RCV001248626]\|not specified [RCV004035285]	Chr7:105565546 [GRCh38] Chr7:105205993 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2029A>G (p.Met677Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002418745]\|not provided [RCV001217023]	Chr7:105565419 [GRCh38] Chr7:105205866 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2334G>C (p.Glu778Asp)	single nucleotide variant	not provided [RCV001220943]\|not specified [RCV004032402]	Chr7:105567266 [GRCh38] Chr7:105207713 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2312A>G (p.Lys771Arg)	single nucleotide variant	not provided [RCV001223868]\|not specified [RCV004032490]	Chr7:105567244 [GRCh38] Chr7:105207691 [GRCh37] Chr7:7q22.3	uncertain significance
NM_001355526.2(EFCAB10):c.383+352T>A	single nucleotide variant	not provided [RCV000866497]	Chr7:105567115 [GRCh38] Chr7:105207562 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2150del (p.Ser717fs)	deletion	not provided [RCV001245278]\|not specified [RCV004034819]	Chr7:105565612 [GRCh38] Chr7:105206059 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2050G>T (p.Val684Leu)	single nucleotide variant	not provided [RCV001213514]	Chr7:105565440 [GRCh38] Chr7:105205887 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2187T>C (p.His729=)	single nucleotide variant	not provided [RCV001054626]\|not specified [RCV004031720]	Chr7:105567119 [GRCh38] Chr7:105207566 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NM_021930.6(RINT1):c.2224G>A (p.Gly742Ser)	single nucleotide variant	not provided [RCV001063662]\|not specified [RCV004030502]	Chr7:105567156 [GRCh38] Chr7:105207603 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2128C>T (p.Arg710Trp)	single nucleotide variant	not provided [RCV001061789]\|not specified [RCV004030434]	Chr7:105565590 [GRCh38] Chr7:105206037 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1978C>T (p.Leu660Phe)	single nucleotide variant	not provided [RCV001037947]\|not specified [RCV004031049]	Chr7:105565368 [GRCh38] Chr7:105205815 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2047_2050dup (p.Val684fs)	duplication	not provided [RCV001245964]	Chr7:105565434..105565435 [GRCh38] Chr7:105205881..105205882 [GRCh37] Chr7:7q22.3	pathogenic\|uncertain significance
NM_021930.6(RINT1):c.1973A>G (p.His658Arg)	single nucleotide variant	not provided [RCV001228592]\|not specified [RCV004032641]	Chr7:105565363 [GRCh38] Chr7:105205810 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NM_021930.6(RINT1):c.2318C>T (p.Ala773Val)	single nucleotide variant	not provided [RCV001232464]\|not specified [RCV004033168]	Chr7:105567250 [GRCh38] Chr7:105207697 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2248del (p.Val750fs)	deletion	not provided [RCV001232692]\|not specified [RCV004033175]	Chr7:105567180 [GRCh38] Chr7:105207627 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2371G>A (p.Gly791Arg)	single nucleotide variant	not provided [RCV001229550]\|not specified [RCV004032670]	Chr7:105567303 [GRCh38] Chr7:105207750 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2161A>G (p.Lys721Glu)	single nucleotide variant	not provided [RCV001302797]\|not specified [RCV004036253]	Chr7:105565623 [GRCh38] Chr7:105206070 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2254C>T (p.Gln752Ter)	single nucleotide variant	not provided [RCV001350114]\|not specified [RCV004036609]	Chr7:105567186 [GRCh38] Chr7:105207633 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2090A>G (p.Asn697Ser)	single nucleotide variant	not provided [RCV001312901]\|not specified [RCV004034270]	Chr7:105565552 [GRCh38] Chr7:105205999 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1941G>A (p.Ser647=)	single nucleotide variant	not provided [RCV001352148]\|not specified [RCV004036677]	Chr7:105565331 [GRCh38] Chr7:105205778 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NM_021930.6(RINT1):c.1966C>T (p.Arg656Ter)	single nucleotide variant	not provided [RCV001301576]\|not specified [RCV004036210]	Chr7:105565356 [GRCh38] Chr7:105205803 [GRCh37] Chr7:7q22.3	pathogenic\|uncertain significance
NM_021930.6(RINT1):c.2160C>G (p.Cys720Trp)	single nucleotide variant	not provided [RCV001302434]\|not specified [RCV004036239]	Chr7:105565622 [GRCh38] Chr7:105206069 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1994A>G (p.Gln665Arg)	single nucleotide variant	not provided [RCV001340234]\|not specified [RCV004035928]	Chr7:105565384 [GRCh38] Chr7:105205831 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1998_1999del (p.Cys667fs)	deletion	not provided [RCV001352053]	Chr7:105565387..105565388 [GRCh38] Chr7:105205834..105205835 [GRCh37] Chr7:7q22.3	pathogenic\|uncertain significance
NM_021930.6(RINT1):c.2096GAG[1] (p.Gly700del)	microsatellite	Infantile liver failure syndrome 3 [RCV001787406]	Chr7:105565556..105565558 [GRCh38] Chr7:105206003..105206005 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2259_2265dup (p.Gly756fs)	duplication	not provided [RCV001306137]	Chr7:105567190..105567191 [GRCh38] Chr7:105207637..105207638 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2356A>C (p.Asn786His)	single nucleotide variant	not provided [RCV001364131]\|not specified [RCV004036900]	Chr7:105567288 [GRCh38] Chr7:105207735 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2159G>T (p.Cys720Phe)	single nucleotide variant	not provided [RCV001345978]\|not specified [RCV004036472]	Chr7:105565621 [GRCh38] Chr7:105206068 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NM_021930.6(RINT1):c.2011T>C (p.Phe671Leu)	single nucleotide variant	not provided [RCV001298238]\|not specified [RCV004036095]	Chr7:105565401 [GRCh38] Chr7:105205848 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2363C>T (p.Pro788Leu)	single nucleotide variant	not provided [RCV001361565]\|not specified [RCV004036807]	Chr7:105567295 [GRCh38] Chr7:105207742 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2320C>T (p.Gln774Ter)	single nucleotide variant	not provided [RCV001344232]	Chr7:105567252 [GRCh38] Chr7:105207699 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2152C>G (p.His718Asp)	single nucleotide variant	not provided [RCV001372757]\|not specified [RCV004037542]	Chr7:105565614 [GRCh38] Chr7:105206061 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2186A>G (p.His729Arg)	single nucleotide variant	not provided [RCV001351402]	Chr7:105565648 [GRCh38] Chr7:105206095 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2179T>C (p.Phe727Leu)	single nucleotide variant	not provided [RCV001370378]\|not specified [RCV004037468]	Chr7:105565641 [GRCh38] Chr7:105206088 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2134C>G (p.Leu712Val)	single nucleotide variant	not provided [RCV001347903]\|not specified [RCV004036530]	Chr7:105565596 [GRCh38] Chr7:105206043 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1920_1922del (p.Val641del)	deletion	not provided [RCV001366148]\|not specified [RCV004036963]	Chr7:105565310..105565312 [GRCh38] Chr7:105205757..105205759 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1949C>T (p.Pro650Leu)	single nucleotide variant	not provided [RCV001314407]\|not specified [RCV004034312]	Chr7:105565339 [GRCh38] Chr7:105205786 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1937G>C (p.Ser646Thr)	single nucleotide variant	not provided [RCV001296879]	Chr7:105565327 [GRCh38] Chr7:105205774 [GRCh37] Chr7:7q22.3	uncertain significance
NM_001355526.2(EFCAB10):c.384-73_384-70del	deletion	not provided [RCV001359918]	Chr7:105565517..105565520 [GRCh38] Chr7:105205964..105205967 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2026C>G (p.Gln676Glu)	single nucleotide variant	not provided [RCV001366882]	Chr7:105565416 [GRCh38] Chr7:105205863 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2237T>C (p.Leu746Pro)	single nucleotide variant	not provided [RCV001365543]	Chr7:105567169 [GRCh38] Chr7:105207616 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1967G>A (p.Arg656Gln)	single nucleotide variant	not provided [RCV001359042]\|not specified [RCV004034516]	Chr7:105565357 [GRCh38] Chr7:105205804 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1936A>T (p.Ser646Cys)	single nucleotide variant	not provided [RCV001295001]\|not specified [RCV004035627]	Chr7:105565326 [GRCh38] Chr7:105205773 [GRCh37] Chr7:7q22.3	uncertain significance
NM_001355526.2(EFCAB10):c.384-1G>A	single nucleotide variant	not provided [RCV001435869]\|not specified [RCV004038339]	Chr7:105565448 [GRCh38] Chr7:105205895 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1920A>T (p.Ala640=)	single nucleotide variant	not provided [RCV001504015]\|not specified [RCV004037833]	Chr7:105565310 [GRCh38] Chr7:105205757 [GRCh37] Chr7:7q22.3	likely benign
NM_001355526.2(EFCAB10):c.383+351G>A	single nucleotide variant	not provided [RCV002540742]	Chr7:105567116 [GRCh38] Chr7:105207563 [GRCh37] Chr7:7q22.3	uncertain significance
NM_001355526.2(EFCAB10):c.384-61A>G	single nucleotide variant	Infantile liver failure syndrome 3 [RCV001794904]	Chr7:105565508 [GRCh38] Chr7:105205955 [GRCh37] Chr7:7q22.3	benign
NM_021930.6(RINT1):c.2141C>G (p.Pro714Arg)	single nucleotide variant	not provided [RCV001944966]	Chr7:105565603 [GRCh38] Chr7:105206050 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1998T>C (p.Leu666=)	single nucleotide variant	not provided [RCV001982993]\|not specified [RCV004044399]	Chr7:105565388 [GRCh38] Chr7:105205835 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2300T>C (p.Val767Ala)	single nucleotide variant	not provided [RCV001864520]	Chr7:105567232 [GRCh38] Chr7:105207679 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2080A>C (p.Asn694His)	single nucleotide variant	not provided [RCV001870970]	Chr7:105565542 [GRCh38] Chr7:105205989 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2021del (p.Phe674fs)	deletion	not provided [RCV001948425]	Chr7:105565408 [GRCh38] Chr7:105205855 [GRCh37] Chr7:7q22.3	pathogenic\|uncertain significance
NM_021930.6(RINT1):c.2320C>G (p.Gln774Glu)	single nucleotide variant	not provided [RCV001915165]\|not specified [RCV004041671]	Chr7:105567252 [GRCh38] Chr7:105207699 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2359del (p.Trp787fs)	deletion	not provided [RCV001985034]	Chr7:105567290 [GRCh38] Chr7:105207737 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2087del (p.Phe696fs)	deletion	not provided [RCV001969044]	Chr7:105565548 [GRCh38] Chr7:105205995 [GRCh37] Chr7:7q22.3	pathogenic\|uncertain significance
NM_021930.6(RINT1):c.2362C>G (p.Pro788Ala)	single nucleotide variant	not provided [RCV002040779]	Chr7:105567294 [GRCh38] Chr7:105207741 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2221G>A (p.Val741Ile)	single nucleotide variant	not provided [RCV001912555]\|not specified [RCV004041632]	Chr7:105567153 [GRCh38] Chr7:105207600 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NM_021930.6(RINT1):c.2303G>C (p.Gly768Ala)	single nucleotide variant	not provided [RCV002041587]	Chr7:105567235 [GRCh38] Chr7:105207682 [GRCh37] Chr7:7q22.3	uncertain significance
NM_001355526.2(EFCAB10):c.*185T>C	single nucleotide variant	not provided [RCV002001967]	Chr7:105565262 [GRCh38] Chr7:105205709 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2212A>G (p.Asn738Asp)	single nucleotide variant	not provided [RCV001970408]	Chr7:105567144 [GRCh38] Chr7:105207591 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2149T>A (p.Ser717Thr)	single nucleotide variant	not provided [RCV001948114]\|not specified [RCV004043572]	Chr7:105565611 [GRCh38] Chr7:105206058 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2021T>C (p.Phe674Ser)	single nucleotide variant	not provided [RCV002015867]\|not specified [RCV004045994]	Chr7:105565411 [GRCh38] Chr7:105205858 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NM_021930.6(RINT1):c.2210del (p.Val736_Leu737insTer)	deletion	not provided [RCV002036731]	Chr7:105567139 [GRCh38] Chr7:105207586 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2221G>T (p.Val741Phe)	single nucleotide variant	not provided [RCV001942434]\|not specified [RCV004039888]	Chr7:105567153 [GRCh38] Chr7:105207600 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2095G>A (p.Gly699Arg)	single nucleotide variant	not provided [RCV001961347]	Chr7:105565557 [GRCh38] Chr7:105206004 [GRCh37] Chr7:7q22.3	uncertain significance
NM_001355526.2(EFCAB10):c.383+358G>T	single nucleotide variant	not provided [RCV001982472]	Chr7:105567109 [GRCh38] Chr7:105207556 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2168C>G (p.Pro723Arg)	single nucleotide variant	not provided [RCV001941067]\|not specified [RCV004042037]	Chr7:105565630 [GRCh38] Chr7:105206077 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2050G>A (p.Val684Ile)	single nucleotide variant	not provided [RCV001907057]\|not specified [RCV004042733]	Chr7:105565440 [GRCh38] Chr7:105205887 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NM_001355526.2(EFCAB10):c.383+354T>C	single nucleotide variant	not provided [RCV001901946]	Chr7:105567113 [GRCh38] Chr7:105207560 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2085C>A (p.His695Gln)	single nucleotide variant	not provided [RCV002050487]\|not specified [RCV004038757]	Chr7:105565547 [GRCh38] Chr7:105205994 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1961C>A (p.Thr654Lys)	single nucleotide variant	not provided [RCV002010189]	Chr7:105565351 [GRCh38] Chr7:105205798 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2335A>T (p.Ile779Phe)	single nucleotide variant	not provided [RCV001952954]\|not specified [RCV004043183]	Chr7:105567267 [GRCh38] Chr7:105207714 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2351G>A (p.Arg784Lys)	single nucleotide variant	not provided [RCV001957695]\|not specified [RCV004043009]	Chr7:105567283 [GRCh38] Chr7:105207730 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2012T>C (p.Phe671Ser)	single nucleotide variant	not provided [RCV001905204]	Chr7:105565402 [GRCh38] Chr7:105205849 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2200T>C (p.Cys734Arg)	single nucleotide variant	not provided [RCV001938218]\|not specified [RCV004043569]	Chr7:105567132 [GRCh38] Chr7:105207579 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2288C>T (p.Ala763Val)	single nucleotide variant	not provided [RCV002018826]\|not specified [RCV004042350]	Chr7:105567220 [GRCh38] Chr7:105207667 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2182A>T (p.Lys728Ter)	single nucleotide variant	not provided [RCV001934436]\|not specified [RCV004043057]	Chr7:105565644 [GRCh38] Chr7:105206091 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2004C>T (p.Phe668=)	single nucleotide variant	not provided [RCV002110043]	Chr7:105565394 [GRCh38] Chr7:105205841 [GRCh37] Chr7:7q22.3	likely benign
NM_001355526.2(EFCAB10):c.383+354T>A	single nucleotide variant	not provided [RCV002205561]	Chr7:105567113 [GRCh38] Chr7:105207560 [GRCh37] Chr7:7q22.3	likely benign
NM_001355526.2(EFCAB10):c.384-28C>T	single nucleotide variant	not provided [RCV002195680]	Chr7:105565475 [GRCh38] Chr7:105205922 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1984T>C (p.Leu662=)	single nucleotide variant	not provided [RCV002168491]\|not specified [RCV004046392]	Chr7:105565374 [GRCh38] Chr7:105205821 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2157T>C (p.Tyr719=)	single nucleotide variant	not provided [RCV002209831]\|not specified [RCV004045610]	Chr7:105565619 [GRCh38] Chr7:105206066 [GRCh37] Chr7:7q22.3	likely benign
NM_001355526.2(EFCAB10):c.384-216A>G	single nucleotide variant	not provided [RCV002075577]	Chr7:105565663 [GRCh38] Chr7:105206110 [GRCh37] Chr7:7q22.3	likely benign
NM_001355526.2(EFCAB10):c.384-66T>C	single nucleotide variant	not provided [RCV002156605]	Chr7:105565513 [GRCh38] Chr7:105205960 [GRCh37] Chr7:7q22.3	likely benign
NM_001355526.2(EFCAB10):c.384-220T>C	single nucleotide variant	not provided [RCV002120257]	Chr7:105565667 [GRCh38] Chr7:105206114 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1938T>C (p.Ser646=)	single nucleotide variant	not provided [RCV002160179]\|not specified [RCV004046350]	Chr7:105565328 [GRCh38] Chr7:105205775 [GRCh37] Chr7:7q22.3	likely benign
NM_001355526.2(EFCAB10):c.*180dup	duplication	not provided [RCV002122779]\|not specified [RCV004046309]	Chr7:105565266..105565267 [GRCh38] Chr7:105205713..105205714 [GRCh37] Chr7:7q22.3	benign\|likely benign
NM_021930.6(RINT1):c.1953G>A (p.Leu651=)	single nucleotide variant	not provided [RCV002198548]	Chr7:105565343 [GRCh38] Chr7:105205790 [GRCh37] Chr7:7q22.3	likely benign
NM_001355526.2(EFCAB10):c.*182A>C	single nucleotide variant	not provided [RCV002181679]	Chr7:105565265 [GRCh38] Chr7:105205712 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2353del (p.Thr785fs)	deletion	not provided [RCV003118161]\|not specified [RCV004244607]	Chr7:105567285 [GRCh38] Chr7:105207732 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2223C>T (p.Val741=)	single nucleotide variant	not specified [RCV004328003]	Chr7:105567155 [GRCh38] Chr7:105207602 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2143T>C (p.Leu715=)	single nucleotide variant	not specified [RCV004328008]	Chr7:105565605 [GRCh38] Chr7:105206052 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2043G>A (p.Lys681=)	single nucleotide variant	not specified [RCV004059617]	Chr7:105565433 [GRCh38] Chr7:105205880 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2205T>C (p.Ile735=)	single nucleotide variant	not specified [RCV004061750]	Chr7:105567137 [GRCh38] Chr7:105207584 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2030T>C (p.Met677Thr)	single nucleotide variant	not specified [RCV004059566]	Chr7:105565420 [GRCh38] Chr7:105205867 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2024_2031dup (p.Leu678fs)	duplication	not specified [RCV004059537]	Chr7:105565413..105565414 [GRCh38] Chr7:105205860..105205861 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2033T>G (p.Leu678Arg)	single nucleotide variant	not specified [RCV004059575]	Chr7:105565423 [GRCh38] Chr7:105205870 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1951T>C (p.Leu651=)	single nucleotide variant	not specified [RCV004061496]	Chr7:105565341 [GRCh38] Chr7:105205788 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2110C>G (p.Leu704Val)	single nucleotide variant	not specified [RCV004060366]	Chr7:105565572 [GRCh38] Chr7:105206019 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1947C>T (p.Cys649=)	single nucleotide variant	not specified [RCV004060984]	Chr7:105565337 [GRCh38] Chr7:105205784 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2123T>G (p.Met708Arg)	single nucleotide variant	not specified [RCV004060410]	Chr7:105565585 [GRCh38] Chr7:105206032 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2124G>T (p.Met708Ile)	single nucleotide variant	not specified [RCV004060420]	Chr7:105565586 [GRCh38] Chr7:105206033 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2223C>G (p.Val741=)	single nucleotide variant	not specified [RCV004061809]	Chr7:105567155 [GRCh38] Chr7:105207602 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2091T>C (p.Asn697=)	single nucleotide variant	not specified [RCV004060300]	Chr7:105565553 [GRCh38] Chr7:105206000 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2228C>T (p.Ser743Phe)	single nucleotide variant	not specified [RCV004061819]	Chr7:105567160 [GRCh38] Chr7:105207607 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2229T>C (p.Ser743=)	single nucleotide variant	not specified [RCV004061826]	Chr7:105567161 [GRCh38] Chr7:105207608 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2348T>G (p.Leu783Trp)	single nucleotide variant	not specified [RCV004063236]	Chr7:105567280 [GRCh38] Chr7:105207727 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2356A>G (p.Asn786Asp)	single nucleotide variant	not specified [RCV004063266]	Chr7:105567288 [GRCh38] Chr7:105207735 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1887A>T (p.Arg629Ser)	single nucleotide variant	not specified [RCV004060187]	Chr7:105565277 [GRCh38] Chr7:105205724 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2004C>G (p.Phe668Leu)	single nucleotide variant	not specified [RCV004059473]	Chr7:105565394 [GRCh38] Chr7:105205841 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2154C>T (p.His718=)	single nucleotide variant	not provided [RCV003098668]\|not specified [RCV004061046]	Chr7:105565616 [GRCh38] Chr7:105206063 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2214T>C (p.Asn738=)	single nucleotide variant	not specified [RCV004061778]	Chr7:105567146 [GRCh38] Chr7:105207593 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2054A>G (p.Tyr685Cys)	single nucleotide variant	not specified [RCV004059656]	Chr7:105565444 [GRCh38] Chr7:105205891 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2082T>C (p.Asn694=)	single nucleotide variant	not specified [RCV004060271]	Chr7:105565544 [GRCh38] Chr7:105205991 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2238G>C (p.Leu746=)	single nucleotide variant	not specified [RCV004061868]	Chr7:105567170 [GRCh38] Chr7:105207617 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2290T>G (p.Leu764Val)	single nucleotide variant	not specified [RCV004062577]	Chr7:105567222 [GRCh38] Chr7:105207669 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2338C>G (p.Leu780Val)	single nucleotide variant	not specified [RCV004062729]	Chr7:105567270 [GRCh38] Chr7:105207717 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2339del (p.Leu780fs)	deletion	not specified [RCV004062731]	Chr7:105567271 [GRCh38] Chr7:105207718 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1984T>A (p.Leu662Met)	single nucleotide variant	not specified [RCV004061654]	Chr7:105565374 [GRCh38] Chr7:105205821 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2231C>T (p.Ala744Val)	single nucleotide variant	not specified [RCV004061837]	Chr7:105567163 [GRCh38] Chr7:105207610 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2352G>A (p.Arg784=)	single nucleotide variant	not specified [RCV004063254]	Chr7:105567284 [GRCh38] Chr7:105207731 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2353A>G (p.Thr785Ala)	single nucleotide variant	not specified [RCV004063256]	Chr7:105567285 [GRCh38] Chr7:105207732 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1971C>G (p.Asp657Glu)	single nucleotide variant	not provided [RCV003561024]\|not specified [RCV004061590]	Chr7:105565361 [GRCh38] Chr7:105205808 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1891T>C (p.Leu631=)	single nucleotide variant	not specified [RCV004060206]	Chr7:105565281 [GRCh38] Chr7:105205728 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2250A>G (p.Val750=)	single nucleotide variant	not specified [RCV004061909]	Chr7:105567182 [GRCh38] Chr7:105207629 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2331T>C (p.Val777=)	single nucleotide variant	not specified [RCV004062711]	Chr7:105567263 [GRCh38] Chr7:105207710 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2072T>C (p.Ile691Thr)	single nucleotide variant	not specified [RCV004060224]	Chr7:105565534 [GRCh38] Chr7:105205981 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2092G>A (p.Glu698Lys)	single nucleotide variant	not specified [RCV004060302]	Chr7:105565554 [GRCh38] Chr7:105206001 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2101G>A (p.Ala701Thr)	single nucleotide variant	not specified [RCV004060330]	Chr7:105565563 [GRCh38] Chr7:105206010 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2103A>C (p.Ala701=)	single nucleotide variant	not specified [RCV004060335]	Chr7:105565565 [GRCh38] Chr7:105206012 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2367T>C (p.Asn789=)	single nucleotide variant	not provided [RCV003679130]\|not specified [RCV004063307]	Chr7:105567299 [GRCh38] Chr7:105207746 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2268G>A (p.Gly756=)	single nucleotide variant	not specified [RCV004061975]	Chr7:105567200 [GRCh38] Chr7:105207647 [GRCh37] Chr7:7q22.3	likely benign
NM_001355526.2(EFCAB10):c.*173G>A	single nucleotide variant	not specified [RCV004060185]	Chr7:105565274 [GRCh38] Chr7:105205721 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2076T>C (p.Leu692=)	single nucleotide variant	not specified [RCV004060241]	Chr7:105565538 [GRCh38] Chr7:105205985 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2145G>A (p.Leu715=)	single nucleotide variant	not provided [RCV003574959]\|not specified [RCV004061006]	Chr7:105565607 [GRCh38] Chr7:105206054 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1893G>C (p.Leu631Phe)	single nucleotide variant	not specified [RCV004060211]	Chr7:105565283 [GRCh38] Chr7:105205730 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2253G>A (p.Leu751=)	single nucleotide variant	not specified [RCV004061921]	Chr7:105567185 [GRCh38] Chr7:105207632 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2282C>T (p.Thr761Ile)	single nucleotide variant	not specified [RCV004062539]	Chr7:105567214 [GRCh38] Chr7:105207661 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1966C>G (p.Arg656Gly)	single nucleotide variant	not provided [RCV003574955]\|not specified [RCV004061565]	Chr7:105565356 [GRCh38] Chr7:105205803 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1970A>C (p.Asp657Ala)	single nucleotide variant	not specified [RCV004061587]	Chr7:105565360 [GRCh38] Chr7:105205807 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1974T>G (p.His658Gln)	single nucleotide variant	not specified [RCV004061607]	Chr7:105565364 [GRCh38] Chr7:105205811 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2220C>A (p.Asn740Lys)	single nucleotide variant	not provided [RCV003098731]\|not specified [RCV004061799]	Chr7:105567152 [GRCh38] Chr7:105207599 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2228C>A (p.Ser743Tyr)	single nucleotide variant	not provided [RCV003098734]\|not specified [RCV004061818]	Chr7:105567160 [GRCh38] Chr7:105207607 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1891T>G (p.Leu631Val)	single nucleotide variant	not specified [RCV004060207]	Chr7:105565281 [GRCh38] Chr7:105205728 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2336T>C (p.Ile779Thr)	single nucleotide variant	not provided [RCV003738266]\|not specified [RCV004062724]	Chr7:105567268 [GRCh38] Chr7:105207715 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2249T>C (p.Val750Ala)	single nucleotide variant	not specified [RCV004061903]	Chr7:105567181 [GRCh38] Chr7:105207628 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2249T>G (p.Val750Gly)	single nucleotide variant	not specified [RCV004061904]	Chr7:105567181 [GRCh38] Chr7:105207628 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2085C>T (p.His695=)	single nucleotide variant	not specified [RCV004060279]	Chr7:105565547 [GRCh38] Chr7:105205994 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2366dup (p.Asn789fs)	duplication	not provided [RCV003101761]\|not specified [RCV004063302]	Chr7:105567296..105567297 [GRCh38] Chr7:105207743..105207744 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2105C>T (p.Ala702Val)	single nucleotide variant	not specified [RCV004060338]	Chr7:105565567 [GRCh38] Chr7:105206014 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2339T>C (p.Leu780Pro)	single nucleotide variant	not specified [RCV004062732]	Chr7:105567271 [GRCh38] Chr7:105207718 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2232A>G (p.Ala744=)	single nucleotide variant	not specified [RCV004061838]	Chr7:105567164 [GRCh38] Chr7:105207611 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2341_2344dup (p.Asn782delinsThrTer)	duplication	not specified [RCV004062743]	Chr7:105567270..105567271 [GRCh38] Chr7:105207717..105207718 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2355A>G (p.Thr785=)	single nucleotide variant	not specified [RCV004063261]	Chr7:105567287 [GRCh38] Chr7:105207734 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1917G>C (p.Gln639His)	single nucleotide variant	not provided [RCV003774563]\|not specified [RCV004060847]	Chr7:105565307 [GRCh38] Chr7:105205754 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1906C>T (p.Gln636Ter)	single nucleotide variant	not specified [RCV004060794]	Chr7:105565296 [GRCh38] Chr7:105205743 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1923G>A (p.Val641=)	single nucleotide variant	not specified [RCV004060875]	Chr7:105565313 [GRCh38] Chr7:105205760 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1928C>T (p.Ser643Phe)	single nucleotide variant	not specified [RCV004060893]	Chr7:105565318 [GRCh38] Chr7:105205765 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2309A>G (p.Tyr770Cys)	single nucleotide variant	not specified [RCV004062641]	Chr7:105567241 [GRCh38] Chr7:105207688 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2052A>T (p.Val684=)	single nucleotide variant	not provided [RCV003774616]\|not specified [RCV004059650]	Chr7:105565442 [GRCh38] Chr7:105205889 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2289A>G (p.Ala763=)	single nucleotide variant	not specified [RCV004062559]	Chr7:105567221 [GRCh38] Chr7:105207668 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1937G>T (p.Ser646Ile)	single nucleotide variant	not specified [RCV004060939]	Chr7:105565327 [GRCh38] Chr7:105205774 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2064A>C (p.Gln688His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002422015]	Chr7:105565454 [GRCh38] Chr7:105205901 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2061C>T (p.Tyr687=)	single nucleotide variant	not specified [RCV004059681]	Chr7:105565451 [GRCh38] Chr7:105205898 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1942G>A (p.Ala648Thr)	single nucleotide variant	not specified [RCV004060963]	Chr7:105565332 [GRCh38] Chr7:105205779 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1947C>G (p.Cys649Trp)	single nucleotide variant	not specified [RCV004060983]	Chr7:105565337 [GRCh38] Chr7:105205784 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1915C>T (p.Gln639Ter)	single nucleotide variant	not specified [RCV004060838]	Chr7:105565305 [GRCh38] Chr7:105205752 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2262T>C (p.Ala754=)	single nucleotide variant	not specified [RCV004061961]	Chr7:105567194 [GRCh38] Chr7:105207641 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2252T>C (p.Leu751Pro)	single nucleotide variant	not specified [RCV004061916]	Chr7:105567184 [GRCh38] Chr7:105207631 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2243A>T (p.Lys748Ile)	single nucleotide variant	not provided [RCV003035244]	Chr7:105567175 [GRCh38] Chr7:105207622 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2183A>T (p.Lys728Ile)	single nucleotide variant	not provided [RCV003034337]	Chr7:105565645 [GRCh38] Chr7:105206092 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1950G>T (p.Pro650=)	single nucleotide variant	not provided [RCV003074264]\|not specified [RCV004070387]	Chr7:105565340 [GRCh38] Chr7:105205787 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2323C>T (p.Gln775Ter)	single nucleotide variant	not provided [RCV002638658]	Chr7:105567255 [GRCh38] Chr7:105207702 [GRCh37] Chr7:7q22.3	uncertain significance
NM_001355526.2(EFCAB10):c.*176A>G	single nucleotide variant	not provided [RCV002949028]	Chr7:105565271 [GRCh38] Chr7:105205718 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2303_2304delinsAC (p.Gly768Asp)	indel	not provided [RCV003077892]	Chr7:105567235..105567236 [GRCh38] Chr7:105207682..105207683 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2056A>C (p.Ile686Leu)	single nucleotide variant	not provided [RCV002637353]\|not specified [RCV004070708]	Chr7:105565446 [GRCh38] Chr7:105205893 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2181dup (p.Lys728Ter)	duplication	not provided [RCV002592132]	Chr7:105565639..105565640 [GRCh38] Chr7:105206086..105206087 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2326_2329del (p.Asp776fs)	deletion	not provided [RCV003059581]	Chr7:105567258..105567261 [GRCh38] Chr7:105207705..105207708 [GRCh37] Chr7:7q22.3	uncertain significance
NM_001355526.2(EFCAB10):c.383+366A>G	single nucleotide variant	not provided [RCV003082433]	Chr7:105567101 [GRCh38] Chr7:105207548 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2378A>G (p.Ter793=)	single nucleotide variant	not provided [RCV002852741]	Chr7:105567310 [GRCh38] Chr7:105207757 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2331T>G (p.Val777=)	single nucleotide variant	not provided [RCV003059582]	Chr7:105567263 [GRCh38] Chr7:105207710 [GRCh37] Chr7:7q22.3	likely benign
NM_001355526.2(EFCAB10):c.384-226_384-221del	microsatellite	not provided [RCV002596160]	Chr7:105565668..105565673 [GRCh38] Chr7:105206115..105206120 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1887-4_1892del	deletion	not provided [RCV002626825]	Chr7:105565271..105565280 [GRCh38] Chr7:105205718..105205727 [GRCh37] Chr7:7q22.3	likely pathogenic
NM_021930.6(RINT1):c.2301T>A (p.Val767=)	single nucleotide variant	not provided [RCV003044166]	Chr7:105567233 [GRCh38] Chr7:105207680 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2112G>A (p.Leu704=)	single nucleotide variant	not provided [RCV003047205]	Chr7:105565574 [GRCh38] Chr7:105206021 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2109G>C (p.Gln703His)	single nucleotide variant	not provided [RCV002651154]	Chr7:105565571 [GRCh38] Chr7:105206018 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2130G>C (p.Arg710=)	single nucleotide variant	not provided [RCV002834455]\|not specified [RCV004064955]	Chr7:105565592 [GRCh38] Chr7:105206039 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2188A>G (p.Ile730Val)	single nucleotide variant	not provided [RCV003069273]\|not specified [RCV004071770]	Chr7:105567120 [GRCh38] Chr7:105207567 [GRCh37] Chr7:7q22.3	likely benign\|uncertain significance
NM_001355526.2(EFCAB10):c.*183C>T	single nucleotide variant	not provided [RCV002635702]	Chr7:105565264 [GRCh38] Chr7:105205711 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2086T>C (p.Phe696Leu)	single nucleotide variant	not specified [RCV004243089]	Chr7:105565548 [GRCh38] Chr7:105205995 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2354C>T (p.Thr785Ile)	single nucleotide variant	not specified [RCV004243104]	Chr7:105567286 [GRCh38] Chr7:105207733 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2065G>A (p.Glu689Lys)	single nucleotide variant	not specified [RCV004243108]	Chr7:105565455 [GRCh38] Chr7:105205902 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2330T>C (p.Val777Ala)	single nucleotide variant	not specified [RCV004281466]	Chr7:105567262 [GRCh38] Chr7:105207709 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2045T>C (p.Leu682Pro)	single nucleotide variant	not provided [RCV003720809]\|not specified [RCV004281467]	Chr7:105565435 [GRCh38] Chr7:105205882 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2239C>G (p.Leu747Val)	single nucleotide variant	not specified [RCV004246266]	Chr7:105567171 [GRCh38] Chr7:105207618 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1930del (p.Leu644fs)	deletion	not specified [RCV004281475]	Chr7:105565318 [GRCh38] Chr7:105205765 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2033T>C (p.Leu678Pro)	single nucleotide variant	not specified [RCV004243106]	Chr7:105565423 [GRCh38] Chr7:105205870 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2150C>T (p.Ser717Phe)	single nucleotide variant	not specified [RCV004243097]	Chr7:105565612 [GRCh38] Chr7:105206059 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2281A>C (p.Thr761Pro)	single nucleotide variant	not specified [RCV004243099]	Chr7:105567213 [GRCh38] Chr7:105207660 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1897T>C (p.Leu633=)	single nucleotide variant	not specified [RCV004331249]	Chr7:105565287 [GRCh38] Chr7:105205734 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1931T>C (p.Leu644Pro)	single nucleotide variant	not specified [RCV004331260]	Chr7:105565321 [GRCh38] Chr7:105205768 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1926G>A (p.Met642Ile)	single nucleotide variant	not specified [RCV004243080]	Chr7:105565316 [GRCh38] Chr7:105205763 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2144T>C (p.Leu715Ser)	single nucleotide variant	not specified [RCV004243081]	Chr7:105565606 [GRCh38] Chr7:105206053 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2047G>A (p.Asp683Asn)	single nucleotide variant	not specified [RCV004243082]	Chr7:105565437 [GRCh38] Chr7:105205884 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2298A>G (p.Glu766=)	single nucleotide variant	not specified [RCV004243085]	Chr7:105567230 [GRCh38] Chr7:105207677 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1980T>C (p.Leu660=)	single nucleotide variant	not specified [RCV004243086]	Chr7:105565370 [GRCh38] Chr7:105205817 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1962G>T (p.Thr654=)	single nucleotide variant	not provided [RCV003730415]\|not specified [RCV004246253]	Chr7:105565352 [GRCh38] Chr7:105205799 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2128C>G (p.Arg710Gly)	single nucleotide variant	not specified [RCV004246257]	Chr7:105565590 [GRCh38] Chr7:105206037 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2155T>G (p.Tyr719Asp)	single nucleotide variant	not specified [RCV004243079]	Chr7:105565617 [GRCh38] Chr7:105206064 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2311A>C (p.Lys771Gln)	single nucleotide variant	not specified [RCV004281481]	Chr7:105567243 [GRCh38] Chr7:105207690 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1895C>T (p.Ser632Phe)	single nucleotide variant	not specified [RCV004246258]	Chr7:105565285 [GRCh38] Chr7:105205732 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2031G>A (p.Met677Ile)	single nucleotide variant	not specified [RCV004326141]	Chr7:105565421 [GRCh38] Chr7:105205868 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2217G>T (p.Leu739Phe)	single nucleotide variant	not specified [RCV004366291]	Chr7:105567149 [GRCh38] Chr7:105207596 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1969G>T (p.Asp657Tyr)	single nucleotide variant	not specified [RCV004366289]	Chr7:105565359 [GRCh38] Chr7:105205806 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1940C>G (p.Ser647Trp)	single nucleotide variant	not specified [RCV004366276]	Chr7:105565330 [GRCh38] Chr7:105205777 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2306T>G (p.Ile769Ser)	single nucleotide variant	not specified [RCV004366281]	Chr7:105567238 [GRCh38] Chr7:105207685 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1965A>G (p.Leu655=)	single nucleotide variant	not specified [RCV004366288]	Chr7:105565355 [GRCh38] Chr7:105205802 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2271G>A (p.Gln757=)	single nucleotide variant	not specified [RCV004364363]	Chr7:105567203 [GRCh38] Chr7:105207650 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2113C>G (p.Gln705Glu)	single nucleotide variant	not specified [RCV004362084]	Chr7:105565575 [GRCh38] Chr7:105206022 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2099G>C (p.Gly700Ala)	single nucleotide variant	not specified [RCV004360512]	Chr7:105565561 [GRCh38] Chr7:105206008 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2258C>T (p.Ser753Leu)	single nucleotide variant	not specified [RCV004362097]	Chr7:105567190 [GRCh38] Chr7:105207637 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1925T>C (p.Met642Thr)	single nucleotide variant	not specified [RCV004362126]	Chr7:105565315 [GRCh38] Chr7:105205762 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2019T>C (p.Ile673=)	single nucleotide variant	not provided [RCV003578156]	Chr7:105565409 [GRCh38] Chr7:105205856 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1975T>A (p.Leu659Ile)	single nucleotide variant	not provided [RCV003716233]	Chr7:105565365 [GRCh38] Chr7:105205812 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1927T>A (p.Ser643Thr)	single nucleotide variant	not provided [RCV003562015]\|not specified [RCV004369258]	Chr7:105565317 [GRCh38] Chr7:105205764 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2207T>C (p.Val736Ala)	single nucleotide variant	not provided [RCV003554536]	Chr7:105567139 [GRCh38] Chr7:105207586 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2196A>G (p.Glu732=)	single nucleotide variant	not provided [RCV003859734]	Chr7:105567128 [GRCh38] Chr7:105207575 [GRCh37] Chr7:7q22.3	likely benign
NM_001355526.2(EFCAB10):c.384-21T>C	single nucleotide variant	not provided [RCV003719593]	Chr7:105565468 [GRCh38] Chr7:105205915 [GRCh37] Chr7:7q22.3	likely benign
NM_001355526.2(EFCAB10):c.384-24C>A	single nucleotide variant	not provided [RCV003735623]	Chr7:105565471 [GRCh38] Chr7:105205918 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2347T>A (p.Leu783Met)	single nucleotide variant	not provided [RCV003675309]	Chr7:105567279 [GRCh38] Chr7:105207726 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2321A>G (p.Gln774Arg)	single nucleotide variant	not provided [RCV003682085]\|not specified [RCV004371638]	Chr7:105567253 [GRCh38] Chr7:105207700 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1941G>T (p.Ser647=)	single nucleotide variant	not specified [RCV004517378]	Chr7:105565331 [GRCh38] Chr7:105205778 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.1996C>T (p.Leu666Phe)	single nucleotide variant	not specified [RCV004517381]	Chr7:105565386 [GRCh38] Chr7:105205833 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2034T>C (p.Leu678=)	single nucleotide variant	not specified [RCV004517383]	Chr7:105565424 [GRCh38] Chr7:105205871 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2035G>T (p.Val679Leu)	single nucleotide variant	not specified [RCV004517384]	Chr7:105565425 [GRCh38] Chr7:105205872 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2082T>A (p.Asn694Lys)	single nucleotide variant	not specified [RCV004517386]	Chr7:105565544 [GRCh38] Chr7:105205991 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2120A>T (p.Asp707Val)	single nucleotide variant	not specified [RCV004517389]	Chr7:105565582 [GRCh38] Chr7:105206029 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2173A>T (p.Asn725Tyr)	single nucleotide variant	not specified [RCV004517390]	Chr7:105565635 [GRCh38] Chr7:105206082 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2216T>G (p.Leu739Trp)	single nucleotide variant	not specified [RCV004517393]	Chr7:105567148 [GRCh38] Chr7:105207595 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2242A>C (p.Lys748Gln)	single nucleotide variant	not specified [RCV004517395]	Chr7:105567174 [GRCh38] Chr7:105207621 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2185C>T (p.His729Tyr)	single nucleotide variant	not specified [RCV004517391]	Chr7:105565647 [GRCh38] Chr7:105206094 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2053T>C (p.Tyr685His)	single nucleotide variant	not specified [RCV004517385]	Chr7:105565443 [GRCh38] Chr7:105205890 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2028A>T (p.Gln676His)	single nucleotide variant	not specified [RCV004517382]	Chr7:105565418 [GRCh38] Chr7:105205865 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2238G>T (p.Leu746=)	single nucleotide variant	not specified [RCV004517394]	Chr7:105567170 [GRCh38] Chr7:105207617 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2283A>G (p.Thr761=)	single nucleotide variant	not specified [RCV004517398]	Chr7:105567215 [GRCh38] Chr7:105207662 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2341C>T (p.Leu781Phe)	single nucleotide variant	not specified [RCV004517403]	Chr7:105567273 [GRCh38] Chr7:105207720 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1895C>G (p.Ser632Cys)	single nucleotide variant	not specified [RCV004517376]	Chr7:105565285 [GRCh38] Chr7:105205732 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1921G>A (p.Val641Met)	single nucleotide variant	not specified [RCV004517377]	Chr7:105565311 [GRCh38] Chr7:105205758 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1982A>C (p.Gln661Pro)	single nucleotide variant	not specified [RCV004517379]	Chr7:105565372 [GRCh38] Chr7:105205819 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2187T>A (p.His729Gln)	single nucleotide variant	not specified [RCV004517392]	Chr7:105567119 [GRCh38] Chr7:105207566 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2289A>T (p.Ala763=)	single nucleotide variant	not specified [RCV004517399]	Chr7:105567221 [GRCh38] Chr7:105207668 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2315T>G (p.Leu772Arg)	single nucleotide variant	not specified [RCV004517400]	Chr7:105567247 [GRCh38] Chr7:105207694 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2336T>G (p.Ile779Ser)	single nucleotide variant	not specified [RCV004517402]	Chr7:105567268 [GRCh38] Chr7:105207715 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.1983G>C (p.Gln661His)	single nucleotide variant	not specified [RCV004517380]	Chr7:105565373 [GRCh38] Chr7:105205820 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2106C>A (p.Ala702=)	single nucleotide variant	not specified [RCV004517388]	Chr7:105565568 [GRCh38] Chr7:105206015 [GRCh37] Chr7:7q22.3	likely benign
NM_021930.6(RINT1):c.2255A>G (p.Gln752Arg)	single nucleotide variant	not specified [RCV004517396]	Chr7:105567187 [GRCh38] Chr7:105207634 [GRCh37] Chr7:7q22.3	uncertain significance
NM_021930.6(RINT1):c.2276C>G (p.Pro759Arg)	single nucleotide variant	not specified [RCV004517397]	Chr7:105567208 [GRCh38] Chr7:105207655 [GRCh37] Chr7:7q22.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	998
Count of miRNA genes:	546
Interacting mature miRNAs:	585
Transcripts:	ENST00000460135, ENST00000469099, ENST00000480514, ENST00000485614, ENST00000486180, ENST00000490493
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

PMC127671P1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	105,223,235 - 105,223,451	UniSTS	GRCh37
GRCh37	9	35,971,874 - 35,972,093	UniSTS	GRCh37
Build 36	7	105,010,471 - 105,010,687	RGD	NCBI36
Celera	7	100,028,353 - 100,028,569	RGD
Celera	9	35,905,444 - 35,905,663	UniSTS
HuRef	9	35,925,666 - 35,925,885	UniSTS
HuRef	7	99,581,500 - 99,581,716	UniSTS
CRA_TCAGchr7v2	7	104,583,795 - 104,584,011	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

284

Low

392

745

122

628

615

142

2046

174

696

938

135

277

Below cutoff

2006

2632

953

477

1089

347

3600

1949

1672

241

461

636

136

1061

2387

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001355526	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001355527	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001355529	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001355530	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001355531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC073073	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI026823	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI066571	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC062748	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC105284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE502251	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH236947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA101957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000460135 ⟹ ENSP00000418425

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	105,567,195 - 105,581,690 (-)	Ensembl

RefSeq Acc Id:

ENST00000469099 ⟹ ENSP00000495682

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	105,565,120 - 105,591,520 (-)	Ensembl

RefSeq Acc Id:

ENST00000480514 ⟹ ENSP00000418678

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	105,565,124 - 105,581,493 (-)	Ensembl

RefSeq Acc Id:

ENST00000485614 ⟹ ENSP00000417841

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	105,565,233 - 105,581,496 (-)	Ensembl

RefSeq Acc Id:

ENST00000486180 ⟹ ENSP00000417484

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	105,566,323 - 105,581,486 (-)	Ensembl

RefSeq Acc Id:

ENST00000490493 ⟹ ENSP00000494437

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	105,567,102 - 105,600,875 (-)	Ensembl

RefSeq Acc Id:

NM_001355526 ⟹ NP_001342455

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	105,565,124 - 105,581,493 (-)	NCBI
T2T-CHM13v2.0	7	106,879,330 - 106,895,701 (-)	NCBI

Sequence:

show sequence

AGTCGCCTAGCAACAGCGGGACGCGGAGCGATGGAGACCAGCAGCAGGGAGCTCCAAGCCGCGG
AGTATTTGGAAAAGCATCAGATCAAGGAGGTGGTTAGCTACCTCACCAGCGCCCTCCTTTTCTT
TCGGCCGGAAAAACCAAAAGAATATTTAATATCTCTATTGGAACGACTGAGAATTGCAAAAGTA
ACAGGCGTGGCGTTTCCTTTCTTTATGGATAACTCTAACATTGTGGCTATGTTTGAGATGATGG
ACTCCTCAGGCAGAGGCACCATATCATTTGTGCAGTATAAAGAAGCCCTAAAAACCCTGGGTCT
ATGCACTGAAGATGAAGATTTACAAGATGATGGACATAAAATAACTTTGGATAAATTCAAGGAG
GAAGTGAACAAGAGGATGAAGGAAATATGATGTATACATCCAGCTTCTCTACAAGCATTTGCCA
GAAAATTTTAAATAAGGAGAAACAAAGCTGCTGCTCCAACTGAAGTAAATGGTCTCGTAACGTC
AGCAGCAACGGGCAAGCCGAACTGGACAGGGACATCACTGCCTGCTCTGACTGAGATGGCAAGG
ACAACCATCTGGAAAAAACACATTTTTACCAAAAAATTTTCATCAGTTTCTATTTTTCAAGTTT
TTAAATCATTTTAAATTTGAGGAAGTGTTCTGTCCTAGGGCATTTTGGATAAGAAAAAATATAC
AGCCTAACATTAAAAGCTCTATCAGAAAATAAA

hide sequence

RefSeq Acc Id:

NM_001355527 ⟹ NP_001342456

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	105,566,323 - 105,581,493 (-)	NCBI
T2T-CHM13v2.0	7	106,880,528 - 106,895,701 (-)	NCBI

Sequence:

show sequence

AGTCGCCTAGCAACAGCGGGACGCGGAGCGATGGAGACCAGCAGCAGGGAGCTCCAAGCCGCGG
AGTATTTGGAAAAGCATCAGATCAAGGAGGTGGTTAGCTACCTCACCAGCGCCCTCCTTTTCTT
TCGGCCGGAAAAACCAAAAGAATATTTAATATCTCTATTGGAACGACTGAGAATTGCAAAAGTA
ACAGGCGTGGCGTTTCCTTTCTTTATGGATAACTCTAACATTGTGGCTATGTTTGAGATGATGG
ACTCCTCAGGCAGAGGCACCATATCATTTGTGCAGTATAAAGAAGCCCTAAAAACCCTGGGTCT
ATGCACTGAAGATGAAGATTTACAAGATGATGGACATAAAATAACTTTGGATAAATTCAAGGAG
GAAGTGAACAAGAGGATGAAGGAAATATGGTCAGCATTTTAATAACACCATAAATCCAAGATAA
TAAGTAATTCTATAAAGTTTTCCAGTTTCATTAATTCAGAATTTCATCATATAACTTGAAATCC
AATTGGCTTCCTCTTTCTTAGAAACAAAAACCAAAGAAACCTTTTTCTGAAAGACATTATTTTC
CAGTATTAGGCCAATTTGTCCTCAAATTAAGTAGAATCTCAACATCTTGTTGAGCCAGTTTGTA
AATTCCAACTTCATTTAATGCTGCTGTGGCAGGAAGCTGCCCTGAAGCTGACTGCAGTACATCT
TTCAGCAGTAGTGCAGAACCGACGTTCAAATTCAAAACAATACAGGCTTCTTTTATACTGTTTA
GGGAAAACAAAGGAGGGAAATGAGATCTCCATTATCTGCATCAATTATATTACAATTTTGAGAA
TCCTAAACAGCTTCTCTGCACTGCTGGTCCACATGTTCTCTATAAAAATATTTATGGATTTATT
ATTTGGTTCTTTTAACATGGTAAGACTACACAGGTGCAGAGTTGCTATTTCTTTAGATTACTAT
AAGGTAATACGATCCCTATTTCAATATGTATCCGTTATTTCCCTAAATACAATACTTAATATTA
ACACTATATTAAATATAGCTATAACTTTAGGTAGATTAGAACATGGGAAAAGACAAAAATAAGA
GATAAATGAAAGCAGCAGAAAGAACATTAAAATAAATTTTAAAAACAGTCCTATGAAACGTGTA
AACATAAGCTTTCATTTTATAAGTCTAAAAGGAATGCTTTATAACCTCACAAAACCCAAACATA
ATTTAAATTTTACTTTTTTTTTTTGAGACATGGTCTTGCTCTGTCACCTAGGCTGGAGTGAAAC
TGCACGATCATAGCTCACTACAGCCTCAGCCTCTCAAGTAGCTAGGACTACAGGTCCACACCCC
CACACCTGGCTTTTTTTTGTTTGTTCATTTTAATACTTTCTGTAGAGATGGAGTCTTGCTATGT
TGCCCAGGCTGGTCTCAAACAGCTGGCCTCAAGCAATTCTCCCACCTCTGCCTCCCAAAGTACT
GGGATTACAGATGTGGGCTACTATGCCTGGCCTATAAATTTTAGATCAACAAATTCTGAAACTA
TAATTATATTTAGAACCAAAA

hide sequence

RefSeq Acc Id:

NM_001355529 ⟹ NP_001342458

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	105,566,323 - 105,581,493 (-)	NCBI
T2T-CHM13v2.0	7	106,880,528 - 106,895,701 (-)	NCBI

Sequence:

show sequence

AGTCGCCTAGCAACAGCGGGACGCGGAGCGATGGAGACCAGCAGCAGGGAGCTCCAAGCCGCGG
AGTATTTGGAAAAGCATCAGATCAAGGAGGTGGTTAGCTACCTCACCAGCGCCCTCCTTTTCTT
TCGGCCGGCCCTAAAAACCCTGGGTCTATGCACTGAAGATGAAGATTTACAAGATGATGGACAT
AAAATAACTTTGGATAAATTCAAGGAGGAAGTGAACAAGAGGATGAAGGAAATATGGTCAGCAT
TTTAATAACACCATAAATCCAAGATAATAAGTAATTCTATAAAGTTTTCCAGTTTCATTAATTC
AGAATTTCATCATATAACTTGAAATCCAATTGGCTTCCTCTTTCTTAGAAACAAAAACCAAAGA
AACCTTTTTCTGAAAGACATTATTTTCCAGTATTAGGCCAATTTGTCCTCAAATTAAGTAGAAT
CTCAACATCTTGTTGAGCCAGTTTGTAAATTCCAACTTCATTTAATGCTGCTGTGGCAGGAAGC
TGCCCTGAAGCTGACTGCAGTACATCTTTCAGCAGTAGTGCAGAACCGACGTTCAAATTCAAAA
CAATACAGGCTTCTTTTATACTGTTTAGGGAAAACAAAGGAGGGAAATGAGATCTCCATTATCT
GCATCAATTATATTACAATTTTGAGAATCCTAAACAGCTTCTCTGCACTGCTGGTCCACATGTT
CTCTATAAAAATATTTATGGATTTATTATTTGGTTCTTTTAACATGGTAAGACTACACAGGTGC
AGAGTTGCTATTTCTTTAGATTACTATAAGGTAATACGATCCCTATTTCAATATGTATCCGTTA
TTTCCCTAAATACAATACTTAATATTAACACTATATTAAATATAGCTATAACTTTAGGTAGATT
AGAACATGGGAAAAGACAAAAATAAGAGATAAATGAAAGCAGCAGAAAGAACATTAAAATAAAT
TTTAAAAACAGTCCTATGAAACGTGTAAACATAAGCTTTCATTTTATAAGTCTAAAAGGAATGC
TTTATAACCTCACAAAACCCAAACATAATTTAAATTTTACTTTTTTTTTTTGAGACATGGTCTT
GCTCTGTCACCTAGGCTGGAGTGAAACTGCACGATCATAGCTCACTACAGCCTCAGCCTCTCAA
GTAGCTAGGACTACAGGTCCACACCCCCACACCTGGCTTTTTTTTGTTTGTTCATTTTAATACT
TTCTGTAGAGATGGAGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACAGCTGGCCTCAAGCAAT
TCTCCCACCTCTGCCTCCCAAAGTACTGGGATTACAGATGTGGGCTACTATGCCTGGCCTATAA
ATTTTAGATCAACAAATTCTGAAACTATAATTATATTTAGAACCAAAA

hide sequence

RefSeq Acc Id:

NM_001355530 ⟹ NP_001342459

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	105,565,124 - 105,581,493 (-)	NCBI
T2T-CHM13v2.0	7	106,879,330 - 106,895,701 (-)	NCBI

Sequence:

show sequence

AGTCGCCTAGCAACAGCGGGACGCGGAGCGATGGAGACCAGCAGCAGGGAGCTCCAAGCCGCGG
AGTATTTGGAAAAGCATCAGATCAAGGAGGTGGTTAGCTACCTCACCAGCGCCCTCCTTTTCTT
TCGGCCGGAAAAACCAAAAGAATATTTAATATCTCTATTGGAACGACTGAGAATTGCAAAAGTA
ACAGGCGTGGCGTTTCCTTTCTTTATGGATAACTCTAACATTGTGGCTATGTTTGAGATGATGG
ACTCCTCAGGCAGAGGCACCATATCATTTGTGCAGTATAAAGAAGCCCTAAAAACCCTGGGTCT
ATGCACTGAAGATGAAGATTTACAAGATGATGGACATAAAATAACTTTGGATAAATTCAAGGAG
GAAGTGAACAAGAGGATGAAGGAAATATGTGAGAAAACAAAGGGAAAAGATTCCGAGTCATATC
AAACTGCAGCTGGGCTGCTCCTCCTTCATTGAAGTGATTAGCAAGAATTATCTGAAACAAAGAA
TAATTCATATAACAGTTGTCTTTATTATCACAGCCCAAAAACAGTCTATTCTTACTTACTTCTT
GGTAGATGTATACATCCAGCTTCTCTACAAGCATTTGCCAGAAAATTTTAAATAAGGAGAAACA
AAGCTGCTGCTCCAACTGAAGTAAATGGTCTCGTAACGTCAGCAGCAACGGGCAAGCCGAACTG
GACAGGGACATCACTGCCTGCTCTGACTGAGATGGCAAGGACAACCATCTGGAAAAAACACATT
TTTACCAAAAAATTTTCATCAGTTTCTATTTTTCAAGTTTTTAAATCATTTTAAATTTGAGGAA
GTGTTCTGTCCTAGGGCATTTTGGATAAGAAAAAATATACAGCCTAACATTAAAAGCTCTATCA
GAAAATAAA

hide sequence

RefSeq Acc Id:

NM_001355531 ⟹ NP_001342460

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	105,565,124 - 105,581,493 (-)	NCBI
T2T-CHM13v2.0	7	106,879,330 - 106,895,701 (-)	NCBI

Sequence:

show sequence

AGTCGCCTAGCAACAGCGGGACGCGGAGCGATGGAGACCAGCAGCAGGGAGCTCCAAGCCGCGG
AGTATTTGGAAAAGCATCAGATCAAGGAGGTGGTTAGCTACCTCACCAGCGCCCTCCTTTTCTT
TCGGCCGGAAAAACCAAAAGAATATTTAATATCTCTATTGGAACGACTGAGAATTGCAAAAGTA
ACAGGCGTGGCGTTTCCTTTCTTTATGGATAACTCTAACATTGTGGCTATGTTTGAGATGATGG
ACTCCTCAGGCAGAGGCACCATATCATTTGTGCAGTATAAAGAAGCCCTAAAAACCCTGGGTCT
ATGCACTGAAGATGAAGATTTACAAGATGATGGACATAAAATAACTTTGGATAAATTCAAGGAG
GAAGTATGTATACATCCAGCTTCTCTACAAGCATTTGCCAGAAAATTTTAAATAAGGAGAAACA
AAGCTGCTGCTCCAACTGAAGTAAATGGTCTCGTAACGTCAGCAGCAACGGGCAAGCCGAACTG
GACAGGGACATCACTGCCTGCTCTGACTGAGATGGCAAGGACAACCATCTGGAAAAAACACATT
TTTACCAAAAAATTTTCATCAGTTTCTATTTTTCAAGTTTTTAAATCATTTTAAATTTGAGGAA
GTGTTCTGTCCTAGGGCATTTTGGATAAGAAAAAATATACAGCCTAACATTAAAAGCTCTATCA
GAAAATAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001342455	(Get FASTA)	NCBI Sequence Viewer
	NP_001342456	(Get FASTA)	NCBI Sequence Viewer
	NP_001342458	(Get FASTA)	NCBI Sequence Viewer
	NP_001342459	(Get FASTA)	NCBI Sequence Viewer
	NP_001342460	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	A6NFE3	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000417484
	ENSP00000417484.1
	ENSP00000417841
	ENSP00000417841.1
	ENSP00000418425
	ENSP00000418425.1
	ENSP00000418678
	ENSP00000418678.1
	ENSP00000494437.1
	ENSP00000495682.1

RefSeq Acc Id:	NP_001342460 ⟸ NM_001355531
- Peptide Label:	isoform 5
- Sequence:	show sequence METSSRELQAAEYLEKHQIKEVVSYLTSALLFFRPEKPKEYLISLLERLRIAKVTGVAFPFFMD NSNIVAMFEMMDSSGRGTISFVQYKEALKTLGLCTEDEDLQDDGHKITLDKFKEEVCIHPASLQ AFARKF hide sequence

RefSeq Acc Id:	NP_001342455 ⟸ NM_001355526
- Peptide Label:	isoform 1
- UniProtKB:	A6NFE3 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence METSSRELQAAEYLEKHQIKEVVSYLTSALLFFRPEKPKEYLISLLERLRIAKVTGVAFPFFMD NSNIVAMFEMMDSSGRGTISFVQYKEALKTLGLCTEDEDLQDDGHKITLDKFKEEVNKRMKEI hide sequence

RefSeq Acc Id:	NP_001342459 ⟸ NM_001355530
- Peptide Label:	isoform 4
- UniProtKB:	J3KR52 (UniProtKB/TrEMBL)
- Sequence:	show sequence METSSRELQAAEYLEKHQIKEVVSYLTSALLFFRPEKPKEYLISLLERLRIAKVTGVAFPFFMD NSNIVAMFEMMDSSGRGTISFVQYKEALKTLGLCTEDEDLQDDGHKITLDKFKEEVNKRMKEIC EKTKGKDSESYQTAAGLLLLH hide sequence

RefSeq Acc Id:	NP_001342458 ⟸ NM_001355529
- Peptide Label:	isoform 3
- UniProtKB:	C9J654 (UniProtKB/TrEMBL)
- Sequence:	show sequence METSSRELQAAEYLEKHQIKEVVSYLTSALLFFRPALKTLGLCTEDEDLQDDGHKITLDKFKEE VNKRMKEIWSAF hide sequence

RefSeq Acc Id:	NP_001342456 ⟸ NM_001355527
- Peptide Label:	isoform 2
- UniProtKB:	J3KR48 (UniProtKB/TrEMBL)
- Sequence:	show sequence METSSRELQAAEYLEKHQIKEVVSYLTSALLFFRPEKPKEYLISLLERLRIAKVTGVAFPFFMD NSNIVAMFEMMDSSGRGTISFVQYKEALKTLGLCTEDEDLQDDGHKITLDKFKEEVNKRMKEIW SAF hide sequence

RefSeq Acc Id:

ENSP00000494437 ⟸ ENST00000490493

RefSeq Acc Id:

ENSP00000495682 ⟸ ENST00000469099

RefSeq Acc Id:

ENSP00000418678 ⟸ ENST00000480514

RefSeq Acc Id:

ENSP00000417841 ⟸ ENST00000485614

RefSeq Acc Id:

ENSP00000417484 ⟸ ENST00000486180

RefSeq Acc Id:

ENSP00000418425 ⟸ ENST00000460135

Protein Domains

EF-hand

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-A6NFE3-F1-model_v2	AlphaFold	A6NFE3	1-127	view protein structure

Promoters

RGD ID:

6805494

Promoter ID:

HG_KWN:59188

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

NR_027068, UC003VDC.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	105,008,971 - 105,009,471 (-)	MPROMDB

RGD ID:

7211589

Promoter ID:

EPDNEW_H11541

Type:

initiation region

Name:

EFCAB10_1

Description:

EF-hand calcium binding domain 10

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H11542

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	105,581,493 - 105,581,553	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:34531	AgrOrtholog
COSMIC	EFCAB10	COSMIC
Ensembl Genes	ENSG00000185055	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000460135	ENTREZGENE
	ENST00000460135.1	UniProtKB/TrEMBL
	ENST00000469099.5	UniProtKB/TrEMBL
	ENST00000480514	ENTREZGENE
	ENST00000480514.6	UniProtKB/Swiss-Prot
	ENST00000485614	ENTREZGENE
	ENST00000485614.5	UniProtKB/TrEMBL
	ENST00000486180	ENTREZGENE
	ENST00000486180.5	UniProtKB/TrEMBL
	ENST00000490493.1	UniProtKB/TrEMBL
Gene3D-CATH	EF-hand	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000185055	GTEx
HGNC ID	HGNC:34531	ENTREZGENE
Human Proteome Map	EFCAB10	Human Proteome Map
InterPro	DD_EFCAB10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EF-hand-dom_pair	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EF_hand_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EFC10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	100130771	ENTREZGENE
PANTHER	EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR21847	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA164718892	PharmGKB
PROSITE	EF_HAND_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Dimerization-anchoring domain of cAMP-dependent PK regulatory subunit	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF47473	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A2R8Y6P2_HUMAN	UniProtKB/TrEMBL
	A0A2R8YDC4_HUMAN	UniProtKB/TrEMBL
	A6NFE3	ENTREZGENE
	C9J654	ENTREZGENE, UniProtKB/TrEMBL
	EFC10_HUMAN	UniProtKB/Swiss-Prot
	J3KR48	ENTREZGENE, UniProtKB/TrEMBL
	J3KR52	ENTREZGENE, UniProtKB/TrEMBL

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

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

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

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar