USH1G (USH1 protein network component sans) - Rat Genome Database

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Gene: USH1G (USH1 protein network component sans) Homo sapiens
Analyze
Symbol: USH1G
Name: USH1 protein network component sans
RGD ID: 1312053
HGNC Page HGNC:16356
Description: Enables identical protein binding activity and spectrin binding activity. Involved in several processes, including photoreceptor cell maintenance; regulation of clathrin-dependent endocytosis; and sensory perception of sound. Located in several cellular components, including ciliary base; nuclear body; and photoreceptor inner segment. Implicated in Usher syndrome type 1G.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ANKS4A; FLJ33924; pre-mRNA splicing regulator USH1G; SANS; scaffold protein containing ankyrin repeats and SAM domain; Usher syndrome 1G (autosomal recessive); Usher syndrome type-1G protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381774,916,083 - 74,923,255 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1774,916,083 - 74,923,256 (-)EnsemblGRCh38hg38GRCh38
GRCh371772,912,175 - 72,919,350 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361770,423,771 - 70,430,946 (-)NCBINCBI36Build 36hg18NCBI36
Build 341770,423,770 - 70,430,946NCBI
Celera1769,505,403 - 69,512,577 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1768,322,527 - 68,329,702 (-)NCBIHuRef
CHM1_11772,976,994 - 72,984,168 (-)NCBICHM1_1
T2T-CHM13v2.01775,807,868 - 75,815,042 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Sensing sound: molecules that orchestrate mechanotransduction by hair cells. Kazmierczak P and Muller U, Trends Neurosci. 2012 Apr;35(4):220-9. doi: 10.1016/j.tins.2011.10.007. Epub 2011 Dec 15.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Weil D, etal., Hum Mol Genet. 2003 Mar 1;12(5):463-71.
7. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
Additional References at PubMed
PMID:11398101   PMID:11941484   PMID:12477932   PMID:12786748   PMID:14702039   PMID:15489334   PMID:15660226   PMID:16283141   PMID:17896313   PMID:18484607   PMID:19028668   PMID:19683999  
PMID:20142502   PMID:20301442   PMID:20801516   PMID:21044053   PMID:21311020   PMID:21767579   PMID:22219650   PMID:22876113   PMID:23704327   PMID:24608321   PMID:24618850   PMID:25255398  
PMID:25502805   PMID:26264872   PMID:27173435   PMID:28137943   PMID:28514442   PMID:28660889   PMID:29997244   PMID:30029624   PMID:31182584   PMID:31515488   PMID:31566003   PMID:31637240  
PMID:31644917   PMID:32296183   PMID:32814053   PMID:33961781   PMID:34023904   PMID:35559673   PMID:38139438  


Genomics

Comparative Map Data
USH1G
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381774,916,083 - 74,923,255 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1774,916,083 - 74,923,256 (-)EnsemblGRCh38hg38GRCh38
GRCh371772,912,175 - 72,919,350 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361770,423,771 - 70,430,946 (-)NCBINCBI36Build 36hg18NCBI36
Build 341770,423,770 - 70,430,946NCBI
Celera1769,505,403 - 69,512,577 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1768,322,527 - 68,329,702 (-)NCBIHuRef
CHM1_11772,976,994 - 72,984,168 (-)NCBICHM1_1
T2T-CHM13v2.01775,807,868 - 75,815,042 (-)NCBIT2T-CHM13v2.0
Ush1g
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911115,206,018 - 115,214,239 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11115,206,018 - 115,212,867 (-)EnsemblGRCm39 Ensembl
GRCm3811115,315,192 - 115,333,736 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11115,315,192 - 115,322,041 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711115,176,506 - 115,183,232 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611115,131,282 - 115,138,008 (-)NCBIMGSCv36mm8
Celera11127,080,957 - 127,087,688 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1180.84NCBI
Ush1g
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810101,055,923 - 101,062,753 (-)NCBIGRCr8
mRatBN7.210100,559,721 - 100,563,590 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10100,557,629 - 100,563,590 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10105,619,880 - 105,623,749 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010105,082,939 - 105,086,808 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010100,480,712 - 100,484,581 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010103,866,566 - 103,873,416 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10103,869,377 - 103,873,246 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010104,422,722 - 104,428,735 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410105,395,184 - 105,399,053 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110105,406,916 - 105,414,392 (-)NCBI
Celera1099,135,313 - 99,139,182 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Ush1g
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555531,788,401 - 1,796,441 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555531,788,443 - 1,795,139 (-)NCBIChiLan1.0ChiLan1.0
USH1G
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21990,953,217 - 90,960,563 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11795,776,198 - 95,783,565 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01768,861,622 - 68,868,822 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11774,417,766 - 74,424,794 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1774,419,769 - 74,424,794 (-)Ensemblpanpan1.1panPan2
USH1G
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.195,527,935 - 5,532,940 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl95,528,492 - 5,533,900 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha96,208,663 - 6,224,130 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.096,200,930 - 6,216,437 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl96,201,086 - 6,207,562 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.196,238,053 - 6,253,545 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.096,348,497 - 6,364,000 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.096,408,847 - 6,416,993 (+)NCBIUU_Cfam_GSD_1.0
Ush1g
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056026,149,216 - 6,153,844 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936594259,030 - 262,778 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936594258,115 - 262,739 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
USH1G
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl126,334,310 - 6,340,361 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1126,333,640 - 6,341,083 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2126,323,797 - 6,331,295 (+)NCBISscrofa10.2Sscrofa10.2susScr3
USH1G
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11646,757,704 - 46,764,113 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1646,758,042 - 46,761,682 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607717,544,260 - 17,550,554 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ush1g
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248014,755,688 - 4,761,180 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248014,747,260 - 4,761,223 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in USH1G
374 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_173477.5(USH1G):c.163_164+13del deletion Usher syndrome type 1G [RCV000024283] Chr17:74922897..74922911 [GRCh38]
Chr17:72918992..72919006 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.186_187del (p.Ile63fs) deletion Usher syndrome type 1G [RCV000003049] Chr17:74920649..74920650 [GRCh38]
Chr17:72916744..72916745 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.394dup (p.Val132fs) duplication Usher syndrome type 1 [RCV000222936]|Usher syndrome type 1G [RCV000003051] Chr17:74920441..74920442 [GRCh38]
Chr17:72916536..72916537 [GRCh37]
Chr17:17q25.1
pathogenic|not provided
NM_173477.5(USH1G):c.491G>C (p.Arg164Pro) single nucleotide variant not provided [RCV000729914] Chr17:74920345 [GRCh38]
Chr17:72916440 [GRCh37]
Chr17:17q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_173477.5(USH1G):c.1340G>A (p.Arg447Gln) single nucleotide variant not provided [RCV000729919] Chr17:74919496 [GRCh38]
Chr17:72915591 [GRCh37]
Chr17:17q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro) single nucleotide variant Usher syndrome type 1G [RCV000003048] Chr17:74922931 [GRCh38]
Chr17:72919026 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) deletion Usher syndrome type 1 [RCV000216021]|Usher syndrome type 1G [RCV000003050] Chr17:74919985..74920004 [GRCh38]
Chr17:72916080..72916099 [GRCh37]
Chr17:17q25.1
pathogenic|not provided
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter) single nucleotide variant Usher syndrome type 1G [RCV000003052]|not provided [RCV001851599] Chr17:74922961 [GRCh38]
Chr17:72919056 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) single nucleotide variant Usher syndrome type 1G [RCV001123313]|not provided [RCV000724716]|not specified [RCV000041414] Chr17:74919578 [GRCh38]
Chr17:72915673 [GRCh37]
Chr17:17q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) single nucleotide variant Rare genetic deafness [RCV000041415]|Usher syndrome type 1G [RCV001799509]|not provided [RCV001382883] Chr17:74919463 [GRCh38]
Chr17:72915558 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
NM_173477.5(USH1G):c.163G>A (p.Gly55Arg) single nucleotide variant not provided [RCV001049359]|not specified [RCV000041416] Chr17:74922911 [GRCh38]
Chr17:72919006 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.251T>C (p.Leu84Pro) single nucleotide variant not specified [RCV000041417] Chr17:74920585 [GRCh38]
Chr17:72916680 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) single nucleotide variant Usher syndrome type 1G [RCV001000268]|not provided [RCV000514814]|not specified [RCV000041418] Chr17:74920448 [GRCh38]
Chr17:72916543 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys) single nucleotide variant Usher syndrome type 1G [RCV000297490]|not provided [RCV000993531]|not specified [RCV000041419] Chr17:74920412 [GRCh38]
Chr17:72916507 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_173477.5(USH1G):c.501C>G (p.Arg167=) single nucleotide variant Usher syndrome type 1G [RCV001125411]|not provided [RCV000886372]|not specified [RCV000041420] Chr17:74920335 [GRCh38]
Chr17:72916430 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_173477.5(USH1G):c.510C>G (p.Ala170=) single nucleotide variant not provided [RCV001493478]|not specified [RCV000041421] Chr17:74920326 [GRCh38]
Chr17:72916421 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) single nucleotide variant Usher syndrome type 1G [RCV001124409]|not provided [RCV000958231]|not specified [RCV000041422] Chr17:74920270 [GRCh38]
Chr17:72916365 [GRCh37]
Chr17:17q25.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_173477.5(USH1G):c.678C>A (p.Gly226=) single nucleotide variant not provided [RCV001511149]|not specified [RCV000041423] Chr17:74920158 [GRCh38]
Chr17:72916253 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_173477.5(USH1G):c.705G>A (p.Glu235=) single nucleotide variant not provided [RCV000841255]|not specified [RCV000041424] Chr17:74920131 [GRCh38]
Chr17:72916226 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.734C>T (p.Ser245Leu) single nucleotide variant not specified [RCV000041425] Chr17:74920102 [GRCh38]
Chr17:72916197 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.770G>T (p.Arg257Leu) single nucleotide variant not provided [RCV003114219]|not specified [RCV000041426] Chr17:74920066 [GRCh38]
Chr17:72916161 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) single nucleotide variant Usher syndrome type 1G [RCV001127509]|not provided [RCV000432648]|not specified [RCV000041427] Chr17:74922991 [GRCh38]
Chr17:72919086 [GRCh37]
Chr17:17q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_173477.5(USH1G):c.84C>T (p.Pro28=) single nucleotide variant not specified [RCV000041428] Chr17:74922990 [GRCh38]
Chr17:72919085 [GRCh37]
Chr17:17q25.1
likely benign
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
NM_173477.4(USH1G):c.1136T>C (p.Leu379Ser) single nucleotide variant Malignant melanoma [RCV000071662] Chr17:74919700 [GRCh38]
Chr17:72915795 [GRCh37]
Chr17:70427390 [NCBI36]
Chr17:17q25.1
not provided
NM_173477.4(USH1G):c.703G>A (p.Glu235Lys) single nucleotide variant Malignant melanoma [RCV000063299] Chr17:74920133 [GRCh38]
Chr17:72916228 [GRCh37]
Chr17:70427823 [NCBI36]
Chr17:17q25.1
not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
NM_173477.5(USH1G):c.1152C>T (p.Asp384=) single nucleotide variant Usher syndrome type 1G [RCV000309496]|not provided [RCV001452693]|not specified [RCV000155744] Chr17:74919684 [GRCh38]
Chr17:72915779 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_173477.5(USH1G):c.-1C>T single nucleotide variant not specified [RCV000155745] Chr17:74923074 [GRCh38]
Chr17:72919169 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn) single nucleotide variant Usher syndrome [RCV003389459]|not provided [RCV001517890]|not specified [RCV000156240] Chr17:74920119 [GRCh38]
Chr17:72916214 [GRCh37]
Chr17:17q25.1
likely pathogenic|benign|likely benign|uncertain significance
NM_173477.5(USH1G):c.607C>G (p.Gln203Glu) single nucleotide variant not provided [RCV001320055]|not specified [RCV000156268] Chr17:74920229 [GRCh38]
Chr17:72916324 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) single nucleotide variant not provided [RCV000882060]|not specified [RCV000155317] Chr17:74919824 [GRCh38]
Chr17:72915919 [GRCh37]
Chr17:17q25.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) single nucleotide variant Usher syndrome type 1G [RCV000999863]|not provided [RCV000725682]|not specified [RCV000155318] Chr17:74919999 [GRCh38]
Chr17:72916094 [GRCh37]
Chr17:17q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_173477.5(USH1G):c.594C>T (p.His198=) single nucleotide variant not provided [RCV001430357]|not specified [RCV000152558] Chr17:74920242 [GRCh38]
Chr17:72916337 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.310A>G (p.Met104Val) single nucleotide variant Hearing impairment [RCV001375211]|USH1G-Related Disorders [RCV000778515]|not provided [RCV001064558]|not specified [RCV000152559] Chr17:74920526 [GRCh38]
Chr17:72916621 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln) single nucleotide variant not provided [RCV000724085]|not specified [RCV000175997] Chr17:74920121 [GRCh38]
Chr17:72916216 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_173477.5(USH1G):c.925C>T (p.Arg309Cys) single nucleotide variant not specified [RCV000219766] Chr17:74919911 [GRCh38]
Chr17:72916006 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.972T>C (p.Ser324=) single nucleotide variant not provided [RCV002057160]|not specified [RCV000213575] Chr17:74919864 [GRCh38]
Chr17:72915959 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.806G>A (p.Arg269Gln) single nucleotide variant not specified [RCV000220164] Chr17:74920030 [GRCh38]
Chr17:72916125 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.809C>A (p.Ala270Asp) single nucleotide variant not provided [RCV001853495]|not specified [RCV000213827] Chr17:74920027 [GRCh38]
Chr17:72916122 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.43G>C (p.Glu15Gln) single nucleotide variant USH1G-related condition [RCV003417779]|not provided [RCV001209968]|not specified [RCV000215882] Chr17:74923031 [GRCh38]
Chr17:72919126 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.756C>T (p.Asp252=) single nucleotide variant not provided [RCV000840682]|not specified [RCV000220694] Chr17:74920080 [GRCh38]
Chr17:72916175 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.46C>G (p.Leu16Val) single nucleotide variant Usher syndrome type 1 [RCV000220910]|not provided [RCV002515610] Chr17:74923028 [GRCh38]
Chr17:72919123 [GRCh37]
Chr17:17q25.1
likely pathogenic|uncertain significance
NM_173477.5(USH1G):c.-8C>T single nucleotide variant Usher syndrome type 1G [RCV001127511]|not specified [RCV000216792] Chr17:74923081 [GRCh38]
Chr17:72919176 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.511G>A (p.Glu171Lys) single nucleotide variant not provided [RCV000756872] Chr17:74920325 [GRCh38]
Chr17:72916420 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1053G>A single nucleotide variant Usher syndrome type 1G [RCV000267221] Chr17:74917020 [GRCh38]
Chr17:72913114 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_173477.5(USH1G):c.*371= deletion Retinitis pigmentosa-deafness syndrome [RCV000292179] Chr17:74917702 [GRCh38]
Chr17:72913796 [GRCh37]
Chr17:17q25.1
benign
NM_173477.5(USH1G):c.344G>A (p.Arg115His) single nucleotide variant Usher syndrome type 1G [RCV000319926] Chr17:74920492 [GRCh38]
Chr17:72916587 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1168TG[6] microsatellite Retinitis pigmentosa-deafness syndrome [RCV000365238] Chr17:74916892..74916893 [GRCh38]
Chr17:72912984..72912985 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.*63C>T single nucleotide variant Usher syndrome type 1G [RCV000344626]|not provided [RCV001711936] Chr17:74918010 [GRCh38]
Chr17:72914105 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_173477.5(USH1G):c.-173G>C single nucleotide variant Usher syndrome type 1G [RCV000367489] Chr17:74923246 [GRCh38]
Chr17:72919341 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.474C>G (p.His158Gln) single nucleotide variant Usher syndrome type 1G [RCV000360537] Chr17:74920362 [GRCh38]
Chr17:72916457 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*49C>T single nucleotide variant Usher syndrome type 1G [RCV000394761]|not provided [RCV001556098] Chr17:74918024 [GRCh38]
Chr17:72914119 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_173477.5(USH1G):c.-2C>T single nucleotide variant Usher syndrome type 1G [RCV001127510]|not provided [RCV000343971] Chr17:74923075 [GRCh38]
Chr17:72919170 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*553A>C single nucleotide variant Usher syndrome type 1G [RCV000318964] Chr17:74917520 [GRCh38]
Chr17:72913614 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.*1150TG[5] microsatellite Retinitis pigmentosa-deafness syndrome [RCV000273023] Chr17:74916912..74916913 [GRCh38]
Chr17:72913004..72913005 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1900G>C single nucleotide variant Usher syndrome type 1G [RCV000280705] Chr17:74916173 [GRCh38]
Chr17:72912265 [GRCh37]
Chr17:17q25.1
benign
NM_173477.5(USH1G):c.348C>T (p.Tyr116=) single nucleotide variant Usher syndrome type 1G [RCV000262407] Chr17:74920488 [GRCh38]
Chr17:72916583 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1168TG[8] microsatellite Retinitis pigmentosa-deafness syndrome [RCV000307989] Chr17:74916891..74916892 [GRCh38]
Chr17:72912983..72912984 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.563G>T (p.Arg188Leu) single nucleotide variant Inborn genetic diseases [RCV002523010]|Usher syndrome type 1G [RCV000399627]|not provided [RCV001473710] Chr17:74920273 [GRCh38]
Chr17:72916368 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_173477.5(USH1G):c.*1224A>C single nucleotide variant Usher syndrome type 1G [RCV000400554] Chr17:74916849 [GRCh38]
Chr17:72912941 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.*1018G>A single nucleotide variant Usher syndrome type 1G [RCV000324674] Chr17:74917055 [GRCh38]
Chr17:72913149 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*498G>A single nucleotide variant Usher syndrome type 1G [RCV000375916] Chr17:74917575 [GRCh38]
Chr17:72913669 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1311del (p.Lys438fs) deletion Usher syndrome type 1G [RCV000985188]|not provided [RCV000333423] Chr17:74919525 [GRCh38]
Chr17:72915620 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
NM_173477.5(USH1G):c.151A>C (p.Ile51Leu) single nucleotide variant not provided [RCV000282711] Chr17:74922923 [GRCh38]
Chr17:72919018 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*202G>A single nucleotide variant Usher syndrome type 1G [RCV000388772] Chr17:74917871 [GRCh38]
Chr17:72913966 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.522C>T (p.Asp174=) single nucleotide variant not provided [RCV000394410] Chr17:74920314 [GRCh38]
Chr17:72916409 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1656T>C single nucleotide variant Usher syndrome type 1G [RCV000313971] Chr17:74916417 [GRCh38]
Chr17:72912509 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.*1093= single nucleotide variant Usher syndrome type 1G [RCV000359418] Chr17:74916980 [GRCh38]
Chr17:72913072 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.*571T>A single nucleotide variant Usher syndrome type 1G [RCV000261384] Chr17:74917502 [GRCh38]
Chr17:72913596 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.436C>T (p.Arg146Cys) single nucleotide variant Usher syndrome type 1G [RCV000400393]|not provided [RCV001221419] Chr17:74920400 [GRCh38]
Chr17:72916495 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1119G>A single nucleotide variant Usher syndrome type 1G [RCV000302300] Chr17:74916954 [GRCh38]
Chr17:72913046 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.478C>G (p.Arg160Gly) single nucleotide variant Usher syndrome type 1G [RCV000303692]|not provided [RCV001344347] Chr17:74920358 [GRCh38]
Chr17:72916453 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1303C>T single nucleotide variant Usher syndrome type 1G [RCV000352489] Chr17:74916770 [GRCh38]
Chr17:72912862 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1361C>G (p.Pro454Arg) single nucleotide variant Inborn genetic diseases [RCV002518826]|not provided [RCV000407734] Chr17:74919475 [GRCh38]
Chr17:72915570 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.753C>T (p.Ser251=) single nucleotide variant Usher syndrome type 1G [RCV000347970] Chr17:74920083 [GRCh38]
Chr17:72916178 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1987C>T single nucleotide variant Usher syndrome type 1G [RCV000334773] Chr17:74916086 [GRCh38]
Chr17:72912178 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*279G>T single nucleotide variant Usher syndrome type 1G [RCV000349394] Chr17:74917794 [GRCh38]
Chr17:72913889 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*95C>G single nucleotide variant Usher syndrome type 1G [RCV000296821] Chr17:74917978 [GRCh38]
Chr17:72914073 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1990A>G single nucleotide variant Retinitis pigmentosa-deafness syndrome [RCV000261483] Chr17:74916083 [GRCh38]
Chr17:72912175 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.*1732C>T single nucleotide variant Usher syndrome type 1G [RCV000338194] Chr17:74916341 [GRCh38]
Chr17:72912433 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*809C>A single nucleotide variant Usher syndrome type 1G [RCV000372403] Chr17:74917264 [GRCh38]
Chr17:72913358 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1903_*1905dup duplication Retinitis pigmentosa-deafness syndrome [RCV000372943] Chr17:74916167..74916168 [GRCh38]
Chr17:72912259..72912260 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.510C>T (p.Ala170=) single nucleotide variant not specified [RCV000605358] Chr17:74920326 [GRCh38]
Chr17:72916421 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1022C>A (p.Ala341Glu) single nucleotide variant not provided [RCV001760560]|not specified [RCV002266012] Chr17:74919814 [GRCh38]
Chr17:72915909 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1719G>T single nucleotide variant Usher syndrome type 1G [RCV000397281] Chr17:74916354 [GRCh38]
Chr17:72912446 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.208_209insTC (p.His70fs) insertion Usher syndrome type 1 [RCV001199566]|not provided [RCV000585179] Chr17:74920627..74920628 [GRCh38]
Chr17:72916722..72916723 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
NM_173477.5(USH1G):c.261C>T (p.Phe87=) single nucleotide variant not provided [RCV002062416]|not specified [RCV000432758] Chr17:74920575 [GRCh38]
Chr17:72916670 [GRCh37]
Chr17:17q25.1
likely benign
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_173477.5(USH1G):c.1001G>C (p.Gly334Ala) single nucleotide variant Inborn genetic diseases [RCV003255859] Chr17:74919835 [GRCh38]
Chr17:72915930 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.595C>G (p.Leu199Val) single nucleotide variant Inborn genetic diseases [RCV003255860] Chr17:74920241 [GRCh38]
Chr17:72916336 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3 copy number gain not provided [RCV000585184] Chr17:72901452..73518861 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.514C>T (p.Arg172Cys) single nucleotide variant not provided [RCV001868025]|not specified [RCV000607966] Chr17:74920322 [GRCh38]
Chr17:72916417 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1170C>T (p.Ser390=) single nucleotide variant Usher syndrome type 1G [RCV001124405]|not provided [RCV001437426] Chr17:74919666 [GRCh38]
Chr17:72915761 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
NM_173477.5(USH1G):c.812del (p.Pro271fs) deletion Deafness [RCV000679845]|Hearing loss, autosomal recessive [RCV001291496] Chr17:74920024 [GRCh38]
Chr17:72916119 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) single nucleotide variant Deafness [RCV000679846]|Hearing loss, autosomal recessive [RCV001291495]|Usher syndrome type 1G [RCV001002707] Chr17:74920325 [GRCh38]
Chr17:72916420 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_173477.5(USH1G):c.854dup (p.Ala286fs) duplication Hearing impairment [RCV000754557] Chr17:74919981..74919982 [GRCh38]
Chr17:72916076..72916077 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
NM_173477.5(USH1G):c.314C>T (p.Ala105Val) single nucleotide variant Hearing impairment [RCV000754558] Chr17:74920522 [GRCh38]
Chr17:72916617 [GRCh37]
Chr17:17q25.1
likely pathogenic
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2
likely pathogenic
NM_173477.5(USH1G):c.433C>T (p.Arg145Trp) single nucleotide variant Inborn genetic diseases [RCV003365434]|not provided [RCV001571058] Chr17:74920403 [GRCh38]
Chr17:72916498 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_173477.5(USH1G):c.372G>A (p.Gln124=) single nucleotide variant not provided [RCV000882428] Chr17:74920464 [GRCh38]
Chr17:72916559 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1054C>A (p.Leu352Met) single nucleotide variant Inborn genetic diseases [RCV003259061]|not provided [RCV001052486] Chr17:74919782 [GRCh38]
Chr17:72915877 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.829C>T (p.Leu277Phe) single nucleotide variant not provided [RCV000996605] Chr17:74920007 [GRCh38]
Chr17:72916102 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.720C>A (p.Ser240Arg) single nucleotide variant Inborn genetic diseases [RCV003243398]|not provided [RCV001034732] Chr17:74920116 [GRCh38]
Chr17:72916211 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.914C>G (p.Ser305Cys) single nucleotide variant not provided [RCV001043619] Chr17:74919922 [GRCh38]
Chr17:72916017 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr) single nucleotide variant Usher syndrome type 1G [RCV000770886] Chr17:74919776 [GRCh38]
Chr17:72915871 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.644del (p.Lys215fs) deletion Usher syndrome type 1G [RCV000778514] Chr17:74920192 [GRCh38]
Chr17:72916287 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266) copy number gain not provided [RCV000767767] Chr17:70720436..73175266 [GRCh37]
Chr17:17q24.3-25.1
pathogenic
NM_173477.5(USH1G):c.1137A>C (p.Leu379Phe) single nucleotide variant not provided [RCV000993530] Chr17:74919699 [GRCh38]
Chr17:72915794 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.635G>C (p.Gly212Ala) single nucleotide variant Usher syndrome type 1G [RCV001124408]|not provided [RCV001054957] Chr17:74920201 [GRCh38]
Chr17:72916296 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.451G>A (p.Ala151Thr) single nucleotide variant not provided [RCV002284446]|not specified [RCV000826067] Chr17:74920385 [GRCh38]
Chr17:72916480 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn) single nucleotide variant Usher syndrome type 1G [RCV001124407]|not provided [RCV001057282] Chr17:74919779 [GRCh38]
Chr17:72915874 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_173477.5(USH1G):c.677G>A (p.Gly226Asp) single nucleotide variant not provided [RCV001062586] Chr17:74920159 [GRCh38]
Chr17:72916254 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.500G>A (p.Arg167His) single nucleotide variant not provided [RCV001234637] Chr17:74920336 [GRCh38]
Chr17:72916431 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.451G>T (p.Ala151Ser) single nucleotide variant not provided [RCV001234795] Chr17:74920385 [GRCh38]
Chr17:72916480 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.160C>T (p.Arg54Cys) single nucleotide variant not provided [RCV001239922] Chr17:74922914 [GRCh38]
Chr17:72919009 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1306C>A (p.Arg436=) single nucleotide variant not provided [RCV001237652] Chr17:74919530 [GRCh38]
Chr17:72915625 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_173477.5(USH1G):c.166G>T (p.Gly56Cys) single nucleotide variant not provided [RCV001217849] Chr17:74920670 [GRCh38]
Chr17:72916765 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.398G>T (p.Gly133Val) single nucleotide variant not provided [RCV001238302] Chr17:74920438 [GRCh38]
Chr17:72916533 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.111_112del (p.Trp38fs) microsatellite not provided [RCV001238487] Chr17:74922962..74922963 [GRCh38]
Chr17:72919057..72919058 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.1246G>A (p.Glu416Lys) single nucleotide variant not provided [RCV001241857] Chr17:74919590 [GRCh38]
Chr17:72915685 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.65G>A (p.Arg22Gln) single nucleotide variant not provided [RCV000993532] Chr17:74923009 [GRCh38]
Chr17:72919104 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.452C>G (p.Ala151Gly) single nucleotide variant not provided [RCV001229530] Chr17:74920384 [GRCh38]
Chr17:72916479 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1112C>T single nucleotide variant Usher syndrome type 1G [RCV001124305] Chr17:74916961 [GRCh38]
Chr17:72913053 [GRCh37]
Chr17:17q25.1
benign
NM_173477.5(USH1G):c.*1098T>A single nucleotide variant Usher syndrome type 1G [RCV001124306] Chr17:74916975 [GRCh38]
Chr17:72913067 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1004dup (p.Leu336fs) duplication Usher syndrome type 1G [RCV002497446]|not provided [RCV001061683] Chr17:74919831..74919832 [GRCh38]
Chr17:72915926..72915927 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
NM_173477.5(USH1G):c.997G>C (p.Asp333His) single nucleotide variant not provided [RCV001229557] Chr17:74919839 [GRCh38]
Chr17:72915934 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.164+118G>A single nucleotide variant not provided [RCV001558128] Chr17:74922792 [GRCh38]
Chr17:72918887 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.*1922A>G single nucleotide variant Usher syndrome type 1G [RCV001127275] Chr17:74916151 [GRCh38]
Chr17:72912243 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*567C>G single nucleotide variant Usher syndrome type 1G [RCV001127384] Chr17:74917506 [GRCh38]
Chr17:72913600 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*233C>G single nucleotide variant Usher syndrome type 1G [RCV001123311] Chr17:74917840 [GRCh38]
Chr17:72913935 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.958A>G (p.Asn320Asp) single nucleotide variant not provided [RCV001245632] Chr17:74919878 [GRCh38]
Chr17:72915973 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1130T>C single nucleotide variant Usher syndrome type 1G [RCV001124304] Chr17:74916943 [GRCh38]
Chr17:72913035 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser) single nucleotide variant Usher syndrome type 1G [RCV001124406] Chr17:74919694 [GRCh38]
Chr17:72915789 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.273C>G (p.Ile91Met) single nucleotide variant not provided [RCV001217862] Chr17:74920563 [GRCh38]
Chr17:72916658 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1382+200A>T single nucleotide variant not provided [RCV001551598] Chr17:74919254 [GRCh38]
Chr17:72915349 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1383-114T>C single nucleotide variant not provided [RCV001717702] Chr17:74918190 [GRCh38]
Chr17:72914285 [GRCh37]
Chr17:17q25.1
benign
NM_173477.5(USH1G):c.165-171C>G single nucleotide variant not provided [RCV001553438] Chr17:74920842 [GRCh38]
Chr17:72916937 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.236A>C (p.His79Pro) single nucleotide variant Inborn genetic diseases [RCV003294688] Chr17:74920600 [GRCh38]
Chr17:72916695 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.30G>C (p.Arg10=) single nucleotide variant not provided [RCV003106678] Chr17:74923044 [GRCh38]
Chr17:72919139 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.724C>G (p.Arg242Gly) single nucleotide variant not provided [RCV001056949] Chr17:74920112 [GRCh38]
Chr17:72916207 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter) single nucleotide variant Usher syndrome type 1G [RCV002495984]|not provided [RCV001658888] Chr17:74920645 [GRCh38]
Chr17:72916740 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
NM_173477.5(USH1G):c.1355G>A (p.Arg452His) single nucleotide variant Inborn genetic diseases [RCV002592511]|not provided [RCV001596563] Chr17:74919481 [GRCh38]
Chr17:72915576 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_173477.5(USH1G):c.*1821C>G single nucleotide variant Usher syndrome type 1G [RCV001123206] Chr17:74916252 [GRCh38]
Chr17:72912344 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1093G>A (p.Asp365Asn) single nucleotide variant Non-Syndromic Hereditary Hearing Impairment [RCV001034600]|not specified [RCV002271547] Chr17:74919743 [GRCh38]
Chr17:72915838 [GRCh37]
Chr17:17q25.1
likely pathogenic|uncertain significance
NM_173477.5(USH1G):c.*1052C>T single nucleotide variant Usher syndrome type 1G [RCV001126966] Chr17:74917021 [GRCh38]
Chr17:72913115 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*831C>T single nucleotide variant Usher syndrome type 1G [RCV001126968] Chr17:74917242 [GRCh38]
Chr17:72913336 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*776G>A single nucleotide variant Usher syndrome type 1G [RCV001126969] Chr17:74917297 [GRCh38]
Chr17:72913391 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.955A>G (p.Arg319Gly) single nucleotide variant Inborn genetic diseases [RCV002554443]|not provided [RCV001061694] Chr17:74919881 [GRCh38]
Chr17:72915976 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*680C>G single nucleotide variant Usher syndrome type 1G [RCV001127383]|not provided [RCV003413933] Chr17:74917393 [GRCh38]
Chr17:72913487 [GRCh37]
Chr17:17q25.1
benign|uncertain significance
NM_173477.5(USH1G):c.327C>T (p.Gly109=) single nucleotide variant Usher syndrome type 1G [RCV001127507]|not provided [RCV003117772] Chr17:74920509 [GRCh38]
Chr17:72916604 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_173477.5(USH1G):c.126T>C (p.His42=) single nucleotide variant Usher syndrome type 1G [RCV001127508]|not provided [RCV002556789] Chr17:74922948 [GRCh38]
Chr17:72919043 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_173477.5(USH1G):c.*256C>T single nucleotide variant Usher syndrome type 1G [RCV001123310] Chr17:74917817 [GRCh38]
Chr17:72913912 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*198T>C single nucleotide variant Usher syndrome type 1G [RCV001123312] Chr17:74917875 [GRCh38]
Chr17:72913970 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*704G>A single nucleotide variant Usher syndrome type 1G [RCV001127382] Chr17:74917369 [GRCh38]
Chr17:72913463 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1217C>G (p.Ala406Gly) single nucleotide variant not specified [RCV001195266] Chr17:74919619 [GRCh38]
Chr17:72915714 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1174T>G single nucleotide variant Usher syndrome type 1G [RCV001124302] Chr17:74916899 [GRCh38]
Chr17:72912991 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1154T>A single nucleotide variant Usher syndrome type 1G [RCV001124303] Chr17:74916919 [GRCh38]
Chr17:72913011 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.205dup (p.Leu69fs) duplication Usher syndrome type 1 [RCV001003247] Chr17:74920630..74920631 [GRCh38]
Chr17:72916725..72916726 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.1016dup (p.Ala341fs) duplication not provided [RCV001581011] Chr17:74919819..74919820 [GRCh38]
Chr17:72915914..72915915 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.165-275C>T single nucleotide variant not provided [RCV001565829] Chr17:74920946 [GRCh38]
Chr17:72917041 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.164+93G>C single nucleotide variant not provided [RCV001547696] Chr17:74922817 [GRCh38]
Chr17:72918912 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.*3G>C single nucleotide variant not provided [RCV001540895] Chr17:74918070 [GRCh38]
Chr17:72914165 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.859A>G (p.Thr287Ala) single nucleotide variant Usher syndrome type 1G [RCV002491616]|not provided [RCV001204620] Chr17:74919977 [GRCh38]
Chr17:72916072 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.145C>T (p.Arg49Cys) single nucleotide variant not provided [RCV001049334] Chr17:74922929 [GRCh38]
Chr17:72919024 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1376G>A single nucleotide variant Usher syndrome type 1G [RCV001123208] Chr17:74916697 [GRCh38]
Chr17:72912789 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1191G>A single nucleotide variant Usher syndrome type 1G [RCV001124301] Chr17:74916882 [GRCh38]
Chr17:72912974 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.424G>C (p.Glu142Gln) single nucleotide variant Usher syndrome type 1G [RCV001125412]|not provided [RCV001882413] Chr17:74920412 [GRCh38]
Chr17:72916507 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1313_1314delinsTC (p.Lys438Ile) indel not provided [RCV001064691] Chr17:74919522..74919523 [GRCh38]
Chr17:72915617..72915618 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.731T>G (p.Leu244Arg) single nucleotide variant not specified [RCV001195267] Chr17:74920105 [GRCh38]
Chr17:72916200 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.665G>A (p.Arg222Gln) single nucleotide variant not provided [RCV001035186] Chr17:74920171 [GRCh38]
Chr17:72916266 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1025C>T (p.Pro342Leu) single nucleotide variant not provided [RCV001203731] Chr17:74919811 [GRCh38]
Chr17:72915906 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*940C>G single nucleotide variant Usher syndrome type 1G [RCV001126967] Chr17:74917133 [GRCh38]
Chr17:72913227 [GRCh37]
Chr17:17q25.1
benign
NM_173477.5(USH1G):c.*482C>T single nucleotide variant Usher syndrome type 1G [RCV001127385] Chr17:74917591 [GRCh38]
Chr17:72913685 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.-76A>G single nucleotide variant Usher syndrome type 1G [RCV001127512] Chr17:74923149 [GRCh38]
Chr17:72919244 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.*1447C>T single nucleotide variant Usher syndrome type 1G [RCV001123207] Chr17:74916626 [GRCh38]
Chr17:72912718 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.931G>A (p.Gly311Ser) single nucleotide variant not provided [RCV001230643] Chr17:74919905 [GRCh38]
Chr17:72916000 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.735G>A (p.Ser245=) single nucleotide variant not provided [RCV001233336] Chr17:74920101 [GRCh38]
Chr17:72916196 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1082A>G (p.Asn361Ser) single nucleotide variant not provided [RCV001211045] Chr17:74919754 [GRCh38]
Chr17:72915849 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1270C>G (p.Leu424Val) single nucleotide variant not provided [RCV001304371] Chr17:74919566 [GRCh38]
Chr17:72915661 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.552C>A (p.Ser184Arg) single nucleotide variant not provided [RCV001302885] Chr17:74920284 [GRCh38]
Chr17:72916379 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1297C>A (p.Leu433Met) single nucleotide variant not provided [RCV001341799] Chr17:74919539 [GRCh38]
Chr17:72915634 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1231G>A (p.Glu411Lys) single nucleotide variant not provided [RCV001339650] Chr17:74919605 [GRCh38]
Chr17:72915700 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1046C>T (p.Ser349Phe) single nucleotide variant not provided [RCV001301804] Chr17:74919790 [GRCh38]
Chr17:72915885 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.480C>T (p.Arg160=) single nucleotide variant not provided [RCV001319999] Chr17:74920356 [GRCh38]
Chr17:72916451 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_173477.5(USH1G):c.28C>T (p.Arg10Trp) single nucleotide variant not provided [RCV001339742] Chr17:74923046 [GRCh38]
Chr17:72919141 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.744G>T (p.Gln248His) single nucleotide variant not provided [RCV001309321] Chr17:74920092 [GRCh38]
Chr17:72916187 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1383-3C>A single nucleotide variant not provided [RCV001351787] Chr17:74918079 [GRCh38]
Chr17:72914174 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.554C>G (p.Thr185Ser) single nucleotide variant not provided [RCV001306416] Chr17:74920282 [GRCh38]
Chr17:72916377 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1206G>A (p.Glu402=) single nucleotide variant not provided [RCV001432998] Chr17:74919630 [GRCh38]
Chr17:72915725 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1361C>T (p.Pro454Leu) single nucleotide variant not provided [RCV001315825] Chr17:74919475 [GRCh38]
Chr17:72915570 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.288C>T (p.Asn96=) single nucleotide variant not provided [RCV001433084] Chr17:74920548 [GRCh38]
Chr17:72916643 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.136G>A (p.Glu46Lys) single nucleotide variant not provided [RCV001338156] Chr17:74922938 [GRCh38]
Chr17:72919033 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.601T>C (p.Tyr201His) single nucleotide variant not provided [RCV001307017] Chr17:74920235 [GRCh38]
Chr17:72916330 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.379C>T (p.Leu127Phe) single nucleotide variant not provided [RCV001372583] Chr17:74920457 [GRCh38]
Chr17:72916552 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.871G>A (p.Glu291Lys) single nucleotide variant not provided [RCV001368653] Chr17:74919965 [GRCh38]
Chr17:72916060 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.647T>C (p.Met216Thr) single nucleotide variant not provided [RCV001339050] Chr17:74920189 [GRCh38]
Chr17:72916284 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.723C>G (p.Ala241=) single nucleotide variant not provided [RCV001397268] Chr17:74920113 [GRCh38]
Chr17:72916208 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.340G>A (p.Val114Met) single nucleotide variant not provided [RCV001372960] Chr17:74920496 [GRCh38]
Chr17:72916591 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.26C>T (p.Ala9Val) single nucleotide variant not provided [RCV001306320] Chr17:74923048 [GRCh38]
Chr17:72919143 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1024C>T (p.Pro342Ser) single nucleotide variant not provided [RCV001346628] Chr17:74919812 [GRCh38]
Chr17:72915907 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.136G>C (p.Glu46Gln) single nucleotide variant not provided [RCV001349547] Chr17:74922938 [GRCh38]
Chr17:72919033 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.914C>T (p.Ser305Phe) single nucleotide variant not provided [RCV001296180] Chr17:74919922 [GRCh38]
Chr17:72916017 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.817C>T (p.Arg273Trp) single nucleotide variant not provided [RCV001300524] Chr17:74920019 [GRCh38]
Chr17:72916114 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.873G>C (p.Glu291Asp) single nucleotide variant not provided [RCV001307045] Chr17:74919963 [GRCh38]
Chr17:72916058 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.880C>G (p.His294Asp) single nucleotide variant not provided [RCV001308891] Chr17:74919956 [GRCh38]
Chr17:72916051 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1225C>G (p.Arg409Gly) single nucleotide variant not provided [RCV001341295] Chr17:74919611 [GRCh38]
Chr17:72915706 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.164+5G>A single nucleotide variant Usher syndrome type 1G [RCV002283541]|not provided [RCV001323490] Chr17:74922905 [GRCh38]
Chr17:72919000 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic|uncertain significance
NM_173477.5(USH1G):c.152T>C (p.Ile51Thr) single nucleotide variant not provided [RCV001296787] Chr17:74922922 [GRCh38]
Chr17:72919017 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.545C>G (p.Thr182Arg) single nucleotide variant not provided [RCV001370730] Chr17:74920291 [GRCh38]
Chr17:72916386 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.796G>C (p.Glu266Gln) single nucleotide variant not provided [RCV001350348] Chr17:74920040 [GRCh38]
Chr17:72916135 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1179G>T (p.Glu393Asp) single nucleotide variant not specified [RCV001449832] Chr17:74919657 [GRCh38]
Chr17:72915752 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.481A>C (p.Met161Leu) single nucleotide variant Inborn genetic diseases [RCV002557523]|not specified [RCV001449833] Chr17:74920355 [GRCh38]
Chr17:72916450 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.825G>T (p.Met275Ile) single nucleotide variant not provided [RCV001304381] Chr17:74920011 [GRCh38]
Chr17:72916106 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.708T>G (p.Asp236Glu) single nucleotide variant not provided [RCV001306179] Chr17:74920128 [GRCh38]
Chr17:72916223 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1208A>G (p.Asp403Gly) single nucleotide variant not provided [RCV001352135] Chr17:74919628 [GRCh38]
Chr17:72915723 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.581C>T (p.Ala194Val) single nucleotide variant not provided [RCV001358984] Chr17:74920255 [GRCh38]
Chr17:72916350 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.265G>T (p.Ala89Ser) single nucleotide variant not provided [RCV001365787] Chr17:74920571 [GRCh38]
Chr17:72916666 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.563G>A (p.Arg188His) single nucleotide variant not provided [RCV001351703] Chr17:74920273 [GRCh38]
Chr17:72916368 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1385A>G (p.Ter462=) single nucleotide variant not provided [RCV001464259] Chr17:74918074 [GRCh38]
Chr17:72914169 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1006C>T (p.Leu336=) single nucleotide variant not provided [RCV001417310] Chr17:74919830 [GRCh38]
Chr17:72915925 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.742C>T (p.Gln248Ter) single nucleotide variant not provided [RCV001388108] Chr17:74920094 [GRCh38]
Chr17:72916189 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.912C>T (p.Asp304=) single nucleotide variant not provided [RCV001504345] Chr17:74919924 [GRCh38]
Chr17:72916019 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.983G>T (p.Gly328Val) single nucleotide variant not provided [RCV001505047]|not specified [RCV002265998] Chr17:74919853 [GRCh38]
Chr17:72915948 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.555C>G (p.Thr185=) single nucleotide variant not provided [RCV001437013] Chr17:74920281 [GRCh38]
Chr17:72916376 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.164+11C>T single nucleotide variant not provided [RCV001400937] Chr17:74922899 [GRCh38]
Chr17:72918994 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.831C>G (p.Leu277=) single nucleotide variant not provided [RCV001446788] Chr17:74920005 [GRCh38]
Chr17:72916100 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.759G>C (p.Val253=) single nucleotide variant not provided [RCV001444301] Chr17:74920077 [GRCh38]
Chr17:72916172 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.777C>T (p.Gly259=) single nucleotide variant not provided [RCV001446894] Chr17:74920059 [GRCh38]
Chr17:72916154 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.357C>T (p.Ser119=) single nucleotide variant not provided [RCV001398566] Chr17:74920479 [GRCh38]
Chr17:72916574 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1382+18C>T single nucleotide variant not provided [RCV001398704] Chr17:74919436 [GRCh38]
Chr17:72915531 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.496C>A (p.Arg166=) single nucleotide variant not provided [RCV001495463] Chr17:74920340 [GRCh38]
Chr17:72916435 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1174C>T (p.Leu392=) single nucleotide variant not provided [RCV001470367] Chr17:74919662 [GRCh38]
Chr17:72915757 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.720C>T (p.Ser240=) single nucleotide variant not provided [RCV001487362] Chr17:74920116 [GRCh38]
Chr17:72916211 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1200C>T (p.His400=) single nucleotide variant not provided [RCV001497836] Chr17:74919636 [GRCh38]
Chr17:72915731 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1383-20T>A single nucleotide variant not provided [RCV001513070] Chr17:74918096 [GRCh38]
Chr17:72914191 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_173477.5(USH1G):c.1383-4A>G single nucleotide variant not provided [RCV001483065] Chr17:74918080 [GRCh38]
Chr17:72914175 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.930C>T (p.Pro310=) single nucleotide variant not provided [RCV001504008] Chr17:74919906 [GRCh38]
Chr17:72916001 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.702C>T (p.Ser234=) single nucleotide variant not provided [RCV001452683] Chr17:74920134 [GRCh38]
Chr17:72916229 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1076G>C (p.Ser359Thr) single nucleotide variant not provided [RCV001752225] Chr17:74919760 [GRCh38]
Chr17:72915855 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.711del (p.Arg238fs) deletion Usher syndrome type 1G [RCV001785119] Chr17:74920125 [GRCh38]
Chr17:72916220 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.847G>A (p.Val283Ile) single nucleotide variant not provided [RCV001806484] Chr17:74919989 [GRCh38]
Chr17:72916084 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.387dup (p.Lys130fs) duplication Usher syndrome type 1G [RCV001785118] Chr17:74920448..74920449 [GRCh38]
Chr17:72916543..72916544 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.1203G>A (p.Met401Ile) single nucleotide variant not provided [RCV001799850] Chr17:74919633 [GRCh38]
Chr17:72915728 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1339C>T (p.Arg447Trp) single nucleotide variant not specified [RCV001779504] Chr17:74919497 [GRCh38]
Chr17:72915592 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1306C>T (p.Arg436Ter) single nucleotide variant not provided [RCV001822164] Chr17:74919530 [GRCh38]
Chr17:72915625 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_173477.5(USH1G):c.255_256del (p.Ser86fs) microsatellite not provided [RCV001863556] Chr17:74920580..74920581 [GRCh38]
Chr17:72916675..72916676 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.502G>T (p.Glu168Ter) single nucleotide variant Usher syndrome [RCV001825113] Chr17:74920334 [GRCh38]
Chr17:72916429 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_173477.5(USH1G):c.1033C>T (p.Arg345Trp) single nucleotide variant not provided [RCV001988491] Chr17:74919803 [GRCh38]
Chr17:72915898 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.497G>C (p.Arg166Pro) single nucleotide variant not provided [RCV002006924] Chr17:74920339 [GRCh38]
Chr17:72916434 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.145C>A (p.Arg49Ser) single nucleotide variant not provided [RCV001908705] Chr17:74922929 [GRCh38]
Chr17:72919024 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1039C>T (p.Gln347Ter) single nucleotide variant not provided [RCV001947441] Chr17:74919797 [GRCh38]
Chr17:72915892 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.1331G>T (p.Arg444Met) single nucleotide variant not provided [RCV001911955] Chr17:74919505 [GRCh38]
Chr17:72915600 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1140C>T (p.Gly380=) single nucleotide variant not provided [RCV001912629] Chr17:74919696 [GRCh38]
Chr17:72915791 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_173477.5(USH1G):c.1079C>T (p.Ala360Val) single nucleotide variant Inborn genetic diseases [RCV002557858]|not provided [RCV001914320] Chr17:74919757 [GRCh38]
Chr17:72915852 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1202T>C (p.Met401Thr) single nucleotide variant not provided [RCV002044301] Chr17:74919634 [GRCh38]
Chr17:72915729 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.599C>T (p.Pro200Leu) single nucleotide variant Inborn genetic diseases [RCV002571290]|not provided [RCV001964273] Chr17:74920237 [GRCh38]
Chr17:72916332 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.487C>T (p.Arg163Trp) single nucleotide variant not provided [RCV001894743] Chr17:74920349 [GRCh38]
Chr17:72916444 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.8A>G (p.Asp3Gly) single nucleotide variant not provided [RCV002001505] Chr17:74923066 [GRCh38]
Chr17:72919161 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1382+3G>A single nucleotide variant not provided [RCV002002780] Chr17:74919451 [GRCh38]
Chr17:72915546 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.20G>T (p.Arg7Leu) single nucleotide variant not provided [RCV002023383] Chr17:74923054 [GRCh38]
Chr17:72919149 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.496C>T (p.Arg166Trp) single nucleotide variant not provided [RCV002006757] Chr17:74920340 [GRCh38]
Chr17:72916435 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.728C>A (p.Ser243Ter) single nucleotide variant not provided [RCV001911474] Chr17:74920108 [GRCh38]
Chr17:72916203 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.499C>A (p.Arg167Ser) single nucleotide variant not provided [RCV001966393] Chr17:74920337 [GRCh38]
Chr17:72916432 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.231C>G (p.His77Gln) single nucleotide variant not provided [RCV002004436] Chr17:74920605 [GRCh38]
Chr17:72916700 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.488G>A (p.Arg163Gln) single nucleotide variant not provided [RCV001886630] Chr17:74920348 [GRCh38]
Chr17:72916443 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.992G>A (p.Arg331His) single nucleotide variant not provided [RCV001962437] Chr17:74919844 [GRCh38]
Chr17:72915939 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.146G>C (p.Arg49Pro) single nucleotide variant not provided [RCV001998776] Chr17:74922928 [GRCh38]
Chr17:72919023 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1220T>G (p.Leu407Arg) single nucleotide variant not provided [RCV001963432] Chr17:74919616 [GRCh38]
Chr17:72915711 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.783del (p.Thr260_Tyr261insTer) deletion not provided [RCV001999766] Chr17:74920053 [GRCh38]
Chr17:72916148 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.464G>A (p.Arg155Gln) single nucleotide variant not provided [RCV002013605] Chr17:74920372 [GRCh38]
Chr17:72916467 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.511G>C (p.Glu171Gln) single nucleotide variant not provided [RCV001887908] Chr17:74920325 [GRCh38]
Chr17:72916420 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.562C>T (p.Arg188Cys) single nucleotide variant not provided [RCV001955588] Chr17:74920274 [GRCh38]
Chr17:72916369 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.161G>T (p.Arg54Leu) single nucleotide variant not provided [RCV001922973] Chr17:74922913 [GRCh38]
Chr17:72919008 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.340G>C (p.Val114Leu) single nucleotide variant not provided [RCV002014010] Chr17:74920496 [GRCh38]
Chr17:72916591 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1081A>G (p.Asn361Asp) single nucleotide variant not provided [RCV002010500] Chr17:74919755 [GRCh38]
Chr17:72915850 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.965T>G (p.Leu322Trp) single nucleotide variant not provided [RCV001955912] Chr17:74919871 [GRCh38]
Chr17:72915966 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.884C>T (p.Ser295Leu) single nucleotide variant not provided [RCV002051073] Chr17:74919952 [GRCh38]
Chr17:72916047 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.389A>C (p.Lys130Thr) single nucleotide variant not provided [RCV001988921] Chr17:74920447 [GRCh38]
Chr17:72916542 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.29G>A (p.Arg10Gln) single nucleotide variant not provided [RCV001952290] Chr17:74923045 [GRCh38]
Chr17:72919140 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.907C>T (p.His303Tyr) single nucleotide variant not provided [RCV002010034] Chr17:74919929 [GRCh38]
Chr17:72916024 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1364C>T (p.Ala455Val) single nucleotide variant not provided [RCV001881189] Chr17:74919472 [GRCh38]
Chr17:72915567 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.851C>G (p.Ser284Cys) single nucleotide variant not provided [RCV001883331] Chr17:74919985 [GRCh38]
Chr17:72916080 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.292T>G (p.Tyr98Asp) single nucleotide variant not provided [RCV001899486] Chr17:74920544 [GRCh38]
Chr17:72916639 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1318_1319delinsGC (p.Leu440Ala) indel not provided [RCV001879135] Chr17:74919517..74919518 [GRCh38]
Chr17:72915612..72915613 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.188T>C (p.Ile63Thr) single nucleotide variant not provided [RCV001900825] Chr17:74920648 [GRCh38]
Chr17:72916743 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.991C>T (p.Arg331Cys) single nucleotide variant not provided [RCV002033417] Chr17:74919845 [GRCh38]
Chr17:72915940 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.248_249delinsAA (p.Phe83Ter) indel not provided [RCV001953923] Chr17:74920587..74920588 [GRCh38]
Chr17:72916682..72916683 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.666del (p.Arg223fs) deletion not provided [RCV001958905] Chr17:74920170 [GRCh38]
Chr17:72916265 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.845G>C (p.Ser282Thr) single nucleotide variant not provided [RCV001976276] Chr17:74919991 [GRCh38]
Chr17:72916086 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.94G>A (p.Gly32Ser) single nucleotide variant not provided [RCV001980268] Chr17:74922980 [GRCh38]
Chr17:72919075 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1346C>G (p.Ala449Gly) single nucleotide variant not provided [RCV001881169] Chr17:74919490 [GRCh38]
Chr17:72915585 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1132G>A (p.Asp378Asn) single nucleotide variant not provided [RCV001920613] Chr17:74919704 [GRCh38]
Chr17:72915799 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.953G>A (p.Arg318His) single nucleotide variant not provided [RCV001993879] Chr17:74919883 [GRCh38]
Chr17:72915978 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.704A>G (p.Glu235Gly) single nucleotide variant not provided [RCV001901123] Chr17:74920132 [GRCh38]
Chr17:72916227 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.20G>C (p.Arg7Pro) single nucleotide variant not provided [RCV001957096] Chr17:74923054 [GRCh38]
Chr17:72919149 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1187T>C (p.Leu396Pro) single nucleotide variant not provided [RCV002010281] Chr17:74919649 [GRCh38]
Chr17:72915744 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.520G>T (p.Asp174Tyr) single nucleotide variant not provided [RCV001976229] Chr17:74920316 [GRCh38]
Chr17:72916411 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.163G>C (p.Gly55Arg) single nucleotide variant not provided [RCV001974365] Chr17:74922911 [GRCh38]
Chr17:72919006 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.783C>T (p.Tyr261=) single nucleotide variant not provided [RCV002191387] Chr17:74920053 [GRCh38]
Chr17:72916148 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.165-20C>A single nucleotide variant not provided [RCV002126563] Chr17:74920691 [GRCh38]
Chr17:72916786 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.966G>A (p.Leu322=) single nucleotide variant not provided [RCV002072853] Chr17:74919870 [GRCh38]
Chr17:72915965 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1059C>T (p.Asp353=) single nucleotide variant not provided [RCV002111296] Chr17:74919777 [GRCh38]
Chr17:72915872 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.438C>T (p.Arg146=) single nucleotide variant not provided [RCV002192600] Chr17:74920398 [GRCh38]
Chr17:72916493 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.369G>A (p.Lys123=) single nucleotide variant not provided [RCV002086702] Chr17:74920467 [GRCh38]
Chr17:72916562 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.849C>T (p.Val283=) single nucleotide variant not provided [RCV002088580] Chr17:74919987 [GRCh38]
Chr17:72916082 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1382+20G>A single nucleotide variant not provided [RCV002186649] Chr17:74919434 [GRCh38]
Chr17:72915529 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.582G>C (p.Ala194=) single nucleotide variant not provided [RCV002109034] Chr17:74920254 [GRCh38]
Chr17:72916349 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1149G>A (p.Glu383=) single nucleotide variant not provided [RCV002149701] Chr17:74919687 [GRCh38]
Chr17:72915782 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1221C>T (p.Leu407=) single nucleotide variant not provided [RCV002130644] Chr17:74919615 [GRCh38]
Chr17:72915710 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.739C>T (p.Leu247=) single nucleotide variant not provided [RCV002213556] Chr17:74920097 [GRCh38]
Chr17:72916192 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.933C>A (p.Gly311=) single nucleotide variant not provided [RCV002133624] Chr17:74919903 [GRCh38]
Chr17:72915998 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.582G>A (p.Ala194=) single nucleotide variant not provided [RCV002151779] Chr17:74920254 [GRCh38]
Chr17:72916349 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.879C>T (p.Ala293=) single nucleotide variant not provided [RCV002194209] Chr17:74919957 [GRCh38]
Chr17:72916052 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.942C>A (p.Thr314=) single nucleotide variant not provided [RCV002173294] Chr17:74919894 [GRCh38]
Chr17:72915989 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1362G>C (p.Pro454=) single nucleotide variant not provided [RCV002131863] Chr17:74919474 [GRCh38]
Chr17:72915569 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1382+19G>A single nucleotide variant not provided [RCV002099738] Chr17:74919435 [GRCh38]
Chr17:72915530 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.564C>A (p.Arg188=) single nucleotide variant not provided [RCV002220671] Chr17:74920272 [GRCh38]
Chr17:72916367 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1382+19G>T single nucleotide variant not provided [RCV002139221] Chr17:74919435 [GRCh38]
Chr17:72915530 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.90G>A (p.Glu30=) single nucleotide variant not provided [RCV002175608] Chr17:74922984 [GRCh38]
Chr17:72919079 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.433C>A (p.Arg145=) single nucleotide variant not provided [RCV002154877] Chr17:74920403 [GRCh38]
Chr17:72916498 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.300G>A (p.Thr100=) single nucleotide variant not provided [RCV002202587] Chr17:74920536 [GRCh38]
Chr17:72916631 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.237C>T (p.His79=) single nucleotide variant not provided [RCV002084354] Chr17:74920599 [GRCh38]
Chr17:72916694 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1173G>T (p.Pro391=) single nucleotide variant not provided [RCV002164412] Chr17:74919663 [GRCh38]
Chr17:72915758 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.22G>C (p.Ala8Pro) single nucleotide variant Usher syndrome type 1G [RCV002251176] Chr17:74923052 [GRCh38]
Chr17:72919147 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.243G>C (p.Leu81=) single nucleotide variant not provided [RCV002100190] Chr17:74920593 [GRCh38]
Chr17:72916688 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.164+8C>G single nucleotide variant not provided [RCV002161389] Chr17:74922902 [GRCh38]
Chr17:72918997 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.402G>A (p.Lys134=) single nucleotide variant not provided [RCV002179717] Chr17:74920434 [GRCh38]
Chr17:72916529 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.417C>T (p.Ala139=) single nucleotide variant not provided [RCV002178155] Chr17:74920419 [GRCh38]
Chr17:72916514 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.627G>A (p.Thr209=) single nucleotide variant not provided [RCV002142858] Chr17:74920209 [GRCh38]
Chr17:72916304 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1086C>T (p.Ser362=) single nucleotide variant not provided [RCV002178293] Chr17:74919750 [GRCh38]
Chr17:72915845 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1258C>T (p.Leu420=) single nucleotide variant not provided [RCV002144329] Chr17:74919578 [GRCh38]
Chr17:72915673 [GRCh37]
Chr17:17q25.1
likely benign
NC_000017.10:g.(?_72914168)_(72919168_?)del deletion not provided [RCV003113829] Chr17:72914168..72919168 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter) single nucleotide variant Usher syndrome [RCV003123554] Chr17:74920229 [GRCh38]
Chr17:72916324 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_173477.5(USH1G):c.754G>T (p.Asp252Tyr) single nucleotide variant Inborn genetic diseases [RCV003295708] Chr17:74920082 [GRCh38]
Chr17:72916177 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.16C>T (p.His6Tyr) single nucleotide variant not provided [RCV002297004] Chr17:74923058 [GRCh38]
Chr17:72919153 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.898G>C (p.Asp300His) single nucleotide variant not provided [RCV002293851] Chr17:74919938 [GRCh38]
Chr17:72916033 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.722C>T (p.Ala241Val) single nucleotide variant Inborn genetic diseases [RCV003308109]|not provided [RCV002303460] Chr17:74920114 [GRCh38]
Chr17:72916209 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_173477.5(USH1G):c.173C>G (p.Pro58Arg) single nucleotide variant not provided [RCV002301498] Chr17:74920663 [GRCh38]
Chr17:72916758 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.203C>T (p.Pro68Leu) single nucleotide variant not provided [RCV002308808] Chr17:74920633 [GRCh38]
Chr17:72916728 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.713G>T (p.Arg238Leu) single nucleotide variant not provided [RCV003032437] Chr17:74920123 [GRCh38]
Chr17:72916218 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.944T>C (p.Met315Thr) single nucleotide variant Inborn genetic diseases [RCV002729004] Chr17:74919892 [GRCh38]
Chr17:72915987 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.531C>G (p.Ser177Arg) single nucleotide variant not provided [RCV002975536] Chr17:74920305 [GRCh38]
Chr17:72916400 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.838G>A (p.Glu280Lys) single nucleotide variant not provided [RCV002636158] Chr17:74919998 [GRCh38]
Chr17:72916093 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.281T>C (p.Leu94Pro) single nucleotide variant not provided [RCV002613767] Chr17:74920555 [GRCh38]
Chr17:72916650 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.22G>A (p.Ala8Thr) single nucleotide variant not provided [RCV002838413] Chr17:74923052 [GRCh38]
Chr17:72919147 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.434G>A (p.Arg145Gln) single nucleotide variant not provided [RCV002755092] Chr17:74920402 [GRCh38]
Chr17:72916497 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.833C>T (p.Ser278Leu) single nucleotide variant not provided [RCV003036354] Chr17:74920003 [GRCh38]
Chr17:72916098 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.799T>C (p.Trp267Arg) single nucleotide variant not provided [RCV002847343] Chr17:74920037 [GRCh38]
Chr17:72916132 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.515G>A (p.Arg172His) single nucleotide variant not provided [RCV002621161] Chr17:74920321 [GRCh38]
Chr17:72916416 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.988G>C (p.Gly330Arg) single nucleotide variant not provided [RCV002825384] Chr17:74919848 [GRCh38]
Chr17:72915943 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.303G>C (p.Pro101=) single nucleotide variant not provided [RCV003039418] Chr17:74920533 [GRCh38]
Chr17:72916628 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1110G>C (p.Glu370Asp) single nucleotide variant not provided [RCV002785260] Chr17:74919726 [GRCh38]
Chr17:72915821 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.491G>A (p.Arg164Gln) single nucleotide variant Inborn genetic diseases [RCV002887710] Chr17:74920345 [GRCh38]
Chr17:72916440 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1325C>A (p.Ala442Asp) single nucleotide variant not provided [RCV002705313] Chr17:74919511 [GRCh38]
Chr17:72915606 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.96C>T (p.Gly32=) single nucleotide variant not provided [RCV002885235] Chr17:74922978 [GRCh38]
Chr17:72919073 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.539G>C (p.Ser180Thr) single nucleotide variant not provided [RCV002569598] Chr17:74920297 [GRCh38]
Chr17:72916392 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1158G>A (p.Glu386=) single nucleotide variant not provided [RCV002847455] Chr17:74919678 [GRCh38]
Chr17:72915773 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.146G>A (p.Arg49His) single nucleotide variant not provided [RCV002690840] Chr17:74922928 [GRCh38]
Chr17:72919023 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1382+18_1382+19insCG insertion not provided [RCV002866878] Chr17:74919435..74919436 [GRCh38]
Chr17:72915530..72915531 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1301G>A (p.Gly434Glu) single nucleotide variant not provided [RCV002636297] Chr17:74919535 [GRCh38]
Chr17:72915630 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.771C>T (p.Arg257=) single nucleotide variant not provided [RCV002658644] Chr17:74920065 [GRCh38]
Chr17:72916160 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1219C>T (p.Leu407Phe) single nucleotide variant not provided [RCV003036215] Chr17:74919617 [GRCh38]
Chr17:72915712 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1235A>C (p.Lys412Thr) single nucleotide variant Inborn genetic diseases [RCV002870040] Chr17:74919601 [GRCh38]
Chr17:72915696 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.502G>A (p.Glu168Lys) single nucleotide variant not provided [RCV003018973] Chr17:74920334 [GRCh38]
Chr17:72916429 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.120C>T (p.Ala40=) single nucleotide variant not provided [RCV003021552] Chr17:74922954 [GRCh38]
Chr17:72919049 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1067G>A (p.Ser356Asn) single nucleotide variant not provided [RCV003021114] Chr17:74919769 [GRCh38]
Chr17:72915864 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1245C>T (p.Leu415=) single nucleotide variant not provided [RCV002645637] Chr17:74919591 [GRCh38]
Chr17:72915686 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1318T>C (p.Leu440=) single nucleotide variant not provided [RCV002745234] Chr17:74919518 [GRCh38]
Chr17:72915613 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.542T>C (p.Leu181Pro) single nucleotide variant not provided [RCV003026128] Chr17:74920294 [GRCh38]
Chr17:72916389 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.792C>T (p.Pro264=) single nucleotide variant not provided [RCV002700929] Chr17:74920044 [GRCh38]
Chr17:72916139 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1375A>T (p.Thr459Ser) single nucleotide variant not provided [RCV003042276] Chr17:74919461 [GRCh38]
Chr17:72915556 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1237A>G (p.Ile413Val) single nucleotide variant not provided [RCV003059829] Chr17:74919599 [GRCh38]
Chr17:72915694 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1218C>T (p.Ala406=) single nucleotide variant not provided [RCV002928923] Chr17:74919618 [GRCh38]
Chr17:72915713 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.174G>A (p.Pro58=) single nucleotide variant not provided [RCV003056825] Chr17:74920662 [GRCh38]
Chr17:72916757 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.926G>T (p.Arg309Leu) single nucleotide variant not provided [RCV002851668] Chr17:74919910 [GRCh38]
Chr17:72916005 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.182G>A (p.Cys61Tyr) single nucleotide variant not provided [RCV002851827] Chr17:74920654 [GRCh38]
Chr17:72916749 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1280G>A (p.Arg427His) single nucleotide variant not provided [RCV003040256] Chr17:74919556 [GRCh38]
Chr17:72915651 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.860C>T (p.Thr287Met) single nucleotide variant not provided [RCV002828635] Chr17:74919976 [GRCh38]
Chr17:72916071 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.397G>C (p.Gly133Arg) single nucleotide variant Inborn genetic diseases [RCV002873909] Chr17:74920439 [GRCh38]
Chr17:72916534 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.805C>T (p.Arg269Ter) single nucleotide variant not provided [RCV003041324] Chr17:74920031 [GRCh38]
Chr17:72916126 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.386C>A (p.Pro129His) single nucleotide variant not provided [RCV002642343] Chr17:74920450 [GRCh38]
Chr17:72916545 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.430G>A (p.Glu144Lys) single nucleotide variant not provided [RCV002851312] Chr17:74920406 [GRCh38]
Chr17:72916501 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.877G>A (p.Ala293Thr) single nucleotide variant not provided [RCV003045488] Chr17:74919959 [GRCh38]
Chr17:72916054 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.45G>A (p.Glu15=) single nucleotide variant not provided [RCV003045781] Chr17:74923029 [GRCh38]
Chr17:72919124 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.923C>T (p.Thr308Ile) single nucleotide variant Inborn genetic diseases [RCV002793105] Chr17:74919913 [GRCh38]
Chr17:72916008 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.101C>A (p.Thr34Asn) single nucleotide variant not provided [RCV002578285] Chr17:74922973 [GRCh38]
Chr17:72919068 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.795G>A (p.Lys265=) single nucleotide variant not provided [RCV002580342] Chr17:74920041 [GRCh38]
Chr17:72916136 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.985C>A (p.Leu329Met) single nucleotide variant not provided [RCV003028490] Chr17:74919851 [GRCh38]
Chr17:72915946 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1368G>A (p.Leu456=) single nucleotide variant not provided [RCV002715379] Chr17:74919468 [GRCh38]
Chr17:72915563 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.968G>C (p.Ser323Thr) single nucleotide variant not provided [RCV002578141] Chr17:74919868 [GRCh38]
Chr17:72915963 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.729G>T (p.Ser243=) single nucleotide variant not provided [RCV002899437] Chr17:74920107 [GRCh38]
Chr17:72916202 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1146C>T (p.Asp382=) single nucleotide variant not provided [RCV002814682] Chr17:74919690 [GRCh38]
Chr17:72915785 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.867G>A (p.Ala289=) single nucleotide variant not provided [RCV002653548] Chr17:74919969 [GRCh38]
Chr17:72916064 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1054C>T (p.Leu352=) single nucleotide variant not provided [RCV003066322] Chr17:74919782 [GRCh38]
Chr17:72915877 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.975G>A (p.Gly325=) single nucleotide variant not provided [RCV002607694] Chr17:74919861 [GRCh38]
Chr17:72915956 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.374G>A (p.Ser125Asn) single nucleotide variant not provided [RCV002653717] Chr17:74920462 [GRCh38]
Chr17:72916557 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1201A>G (p.Met401Val) single nucleotide variant not provided [RCV002680661] Chr17:74919635 [GRCh38]
Chr17:72915730 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1358C>T (p.Pro453Leu) single nucleotide variant Inborn genetic diseases [RCV003382905]|not provided [RCV002634470] Chr17:74919478 [GRCh38]
Chr17:72915573 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.519C>G (p.Ser173=) single nucleotide variant not provided [RCV002607219] Chr17:74920317 [GRCh38]
Chr17:72916412 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1306C>G (p.Arg436Gly) single nucleotide variant not provided [RCV002721639] Chr17:74919530 [GRCh38]
Chr17:72915625 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1010A>T (p.Asp337Val) single nucleotide variant not provided [RCV002611658] Chr17:74919826 [GRCh38]
Chr17:72915921 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.243G>A (p.Leu81=) single nucleotide variant not provided [RCV002653611] Chr17:74920593 [GRCh38]
Chr17:72916688 [GRCh37]
Chr17:17q25.1
likely benign
NM_173477.5(USH1G):c.1324del (p.Ala442fs) deletion Usher syndrome type 1G [RCV003155580] Chr17:74919512 [GRCh38]
Chr17:72915607 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.85dup (p.Asp29fs) duplication Usher syndrome type 1G [RCV003155581] Chr17:74922988..74922989 [GRCh38]
Chr17:72919083..72919084 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.1313A>T (p.Lys438Met) single nucleotide variant Inborn genetic diseases [RCV003178658] Chr17:74919523 [GRCh38]
Chr17:72915618 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1 copy number loss not provided [RCV003222940] Chr17:72864876..73328878 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.1314G>C (p.Lys438Asn) single nucleotide variant Inborn genetic diseases [RCV003178652] Chr17:74919522 [GRCh38]
Chr17:72915617 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.70G>A (p.Glu24Lys) single nucleotide variant Inborn genetic diseases [RCV003210393] Chr17:74923004 [GRCh38]
Chr17:72919099 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:72718277-74142256) copy number gain 7q11.23 microduplication syndrome [RCV003325440] Chr17:72718277..74142256 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.769C>T (p.Arg257Cys) single nucleotide variant Inborn genetic diseases [RCV003261878] Chr17:74920067 [GRCh38]
Chr17:72916162 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.580G>T (p.Ala194Ser) single nucleotide variant not provided [RCV003325640] Chr17:74920256 [GRCh38]
Chr17:72916351 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.463C>T (p.Arg155Trp) single nucleotide variant not provided [RCV003480261] Chr17:74920373 [GRCh38]
Chr17:72916468 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_173477.5(USH1G):c.956_960delinsA (p.Arg319fs) indel Usher syndrome [RCV003389558] Chr17:74919876..74919880 [GRCh38]
Chr17:72915971..72915975 [GRCh37]
Chr17:17q25.1
pathogenic
NM_173477.5(USH1G):c.1004del (p.Gly335fs) deletion not provided [RCV003547833] Chr17:74919832 [GRCh38]
Chr17:72915927 [GRCh37]
Chr17:17q25.1
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1632
Count of miRNA genes:767
Interacting mature miRNAs:905
Transcripts:ENST00000319642, ENST00000579243
Prediction methods: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
D17S1830  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25.1UniSTS
Marshfield Genetic Map17116.86RGD
Marshfield Genetic Map17116.86UniSTS
Genethon Genetic Map17117.7UniSTS
D17S1806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371777,445,675 - 77,445,787UniSTSGRCh37
Build 361774,957,270 - 74,957,382RGDNCBI36
Celera1774,043,387 - 74,043,519RGD
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17q25.1UniSTS
HuRef1772,868,248 - 72,868,374UniSTS
Marshfield Genetic Map17114.41UniSTS
Marshfield Genetic Map17114.41RGD
Genethon Genetic Map17115.4UniSTS


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 2 1 76 1 1 18 19 1 72
Low 102 5 265 48 73 17 1380 14 413 98 868 103 36 6 615
Below cutoff 1507 1567 851 229 807 122 1628 1021 2655 188 470 928 113 776 1193 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC403891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG100207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000579243   ⟹   ENSP00000462568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,917,916 - 74,923,256 (-)Ensembl
RefSeq Acc Id: ENST00000614341   ⟹   ENSP00000480279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1774,916,083 - 74,923,255 (-)Ensembl
RefSeq Acc Id: NM_001282489   ⟹   NP_001269418
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,916,083 - 74,923,255 (-)NCBI
HuRef1768,322,527 - 68,329,709 (-)NCBI
CHM1_11772,976,994 - 72,984,175 (-)NCBI
T2T-CHM13v2.01775,807,868 - 75,815,042 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173477   ⟹   NP_775748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,916,083 - 74,923,255 (-)NCBI
GRCh371772,912,176 - 72,919,351 (-)ENTREZGENE
Build 361770,423,771 - 70,430,946 (-)NCBI Archive
HuRef1768,322,527 - 68,329,709 (-)NCBI
CHM1_11772,976,994 - 72,984,175 (-)NCBI
T2T-CHM13v2.01775,807,868 - 75,815,042 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524296   ⟹   XP_011522598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,916,083 - 74,922,902 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054314993   ⟹   XP_054170968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01775,807,868 - 75,814,689 (-)NCBI
RefSeq Acc Id: NP_775748   ⟸   NM_173477
- Peptide Label: isoform 1
- UniProtKB: Q8N251 (UniProtKB/Swiss-Prot),   Q495M9 (UniProtKB/Swiss-Prot),   A8K189 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269418   ⟸   NM_001282489
- Peptide Label: isoform 2
- UniProtKB: B4DL95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522598   ⟸   XM_011524296
- Peptide Label: isoform X1
- UniProtKB: B4DL95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000480279   ⟸   ENST00000614341
RefSeq Acc Id: ENSP00000462568   ⟸   ENST00000579243
RefSeq Acc Id: XP_054170968   ⟸   XM_054314993
- Peptide Label: isoform X1
- UniProtKB: B4DL95 (UniProtKB/TrEMBL)
Protein Domains
SAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q495M9-F1-model_v2 AlphaFold Q495M9 1-461 view protein structure

Promoters
RGD ID:7236241
Promoter ID:EPDNEW_H23866
Type:initiation region
Name:USH1G_1
Description:USH1 protein network component sans
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381774,923,255 - 74,923,315EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16356 AgrOrtholog
COSMIC USH1G COSMIC
Ensembl Genes ENSG00000182040 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000579243.1 UniProtKB/TrEMBL
  ENST00000614341 ENTREZGENE
  ENST00000614341.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000182040 GTEx
HGNC ID HGNC:16356 ENTREZGENE
Human Proteome Map USH1G Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USH1G_SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 124590 ENTREZGENE
OMIM 607696 OMIM
PANTHER ANK_REP_REGION DOMAIN-CONTAINING PROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USHER SYNDROME TYPE-1G PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_4 UniProtKB/TrEMBL
  SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38126 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A385DPC5_HUMAN UniProtKB/TrEMBL
  A8K189 ENTREZGENE, UniProtKB/TrEMBL
  B4DL95 ENTREZGENE, UniProtKB/TrEMBL
  J3KSN5_HUMAN UniProtKB/TrEMBL
  Q495M9 ENTREZGENE
  Q8N251 ENTREZGENE
  USH1G_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8N251 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 USH1G  USH1 protein network component sans  USH1G  Usher syndrome 1G (autosomal recessive)  Symbol and/or name change 5135510 APPROVED