AL049830.3 (novel transcript, antisense to COCH) - Rat Genome Database

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Gene: AL049830.3 (novel transcript, antisense to COCH) Homo sapiens
Analyze
Symbol: AL049830.3
Name: novel transcript, antisense to COCH
RGD ID: 16561720
Description: ASSOCIATED WITH autosomal dominant nonsyndromic deafness 9; autosomal recessive nonsyndromic deafness 110; Bilateral sensorineural hearing impairment
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LOC100506071; uncharacterized LOC100506071
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381430,876,179 - 30,889,808 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1430,876,179 - 30,889,808 (-)EnsemblGRCh38hg38GRCh38
GRCh371431,345,385 - 31,359,014 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map14q12NCBI
HuRef1411,462,505 - 11,476,135 (-)NCBIHuRef
CHM1_11431,344,560 - 31,358,190 (-)NCBICHM1_1
T2T-CHM13v2.01425,073,664 - 25,087,293 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:12477932   PMID:14702039  


Genomics

Variants

.
Variants in AL049830.3
168 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004086.3(COCH):c.630-206T>G single nucleotide variant not provided [RCV001565609] Chr14:30884347 [GRCh38]
Chr14:31353553 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.113G>A (p.Gly38Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001808165] Chr14:30877602 [GRCh38]
Chr14:31346808 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1478-293G>A single nucleotide variant not provided [RCV001566854] Chr14:30889323 [GRCh38]
Chr14:31358529 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.1624T>C (p.Cys542Arg) single nucleotide variant Bilateral sensorineural hearing impairment [RCV001730851]|not provided [RCV002568269] Chr14:30889762 [GRCh38]
Chr14:31358968 [GRCh37]
Chr14:14q12
pathogenic
NM_004086.3(COCH):c.83-268C>A single nucleotide variant not provided [RCV001645262] Chr14:30877304 [GRCh38]
Chr14:31346510 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.961-35C>T single nucleotide variant not provided [RCV001709226] Chr14:30885761 [GRCh38]
Chr14:31354967 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.1478-183C>G single nucleotide variant not provided [RCV001571966] Chr14:30889433 [GRCh38]
Chr14:31358639 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.733+262T>C single nucleotide variant not provided [RCV001569513] Chr14:30884918 [GRCh38]
Chr14:31354124 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.437-64A>G single nucleotide variant not provided [RCV001643336] Chr14:30880388 [GRCh38]
Chr14:31349594 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000341711]|not provided [RCV000755936]|not specified [RCV000215913] Chr14:30886183 [GRCh38]
Chr14:31355389 [GRCh37]
Chr14:14q12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004086.3(COCH):c.629+57A>C single nucleotide variant not provided [RCV000843644] Chr14:30880791 [GRCh38]
Chr14:31349997 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.87C>T (p.Pro29=) single nucleotide variant not provided [RCV000731337] Chr14:30877576 [GRCh38]
Chr14:31346782 [GRCh37]
Chr14:14q12
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_004086.3(COCH):c.108C>T (p.Thr36=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001112666] Chr14:30877597 [GRCh38]
Chr14:31346803 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.971G>A (p.Arg324Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000344009]|COCH-related condition [RCV003417773]|not provided [RCV002517537]|not specified [RCV000223210] Chr14:30885806 [GRCh38]
Chr14:31355012 [GRCh37]
Chr14:14q12
likely benign|uncertain significance
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
NM_004086.3(COCH):c.1547C>T (p.Pro516Leu) single nucleotide variant not provided [RCV000596385] Chr14:30889685 [GRCh38]
Chr14:31358891 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.429A>G (p.Pro143=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000386569]|Nonsyndromic genetic hearing loss [RCV000787990]|not provided [RCV001596991]|not specified [RCV000213734] Chr14:30879478 [GRCh38]
Chr14:31348684 [GRCh37]
Chr14:14q12
benign|likely benign|uncertain significance
NM_004086.3(COCH):c.771G>A (p.Thr257=) single nucleotide variant not provided [RCV000838650] Chr14:30885431 [GRCh38]
Chr14:31354637 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.1436A>T (p.Tyr479Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001110771]|not provided [RCV001568039] Chr14:30886271 [GRCh38]
Chr14:31355477 [GRCh37]
Chr14:14q12
likely benign|conflicting interpretations of pathogenicity
NM_004086.3(COCH):c.960+10T>C single nucleotide variant not provided [RCV000929478] Chr14:30885630 [GRCh38]
Chr14:31354836 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.1221T>C (p.Ala407=) single nucleotide variant not provided [RCV000841848]|not specified [RCV000825733] Chr14:30886056 [GRCh38]
Chr14:31355262 [GRCh37]
Chr14:14q12
likely benign
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1 copy number loss See cases [RCV000142290] Chr14:28803988..33234266 [GRCh38]
Chr14:29273194..33703472 [GRCh37]
Chr14:28342945..32773223 [NCBI36]
Chr14:14q12-13.1
pathogenic
NM_004086.3(COCH):c.239+5G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001112668]|not provided [RCV000178205] Chr14:30877733 [GRCh38]
Chr14:31346939 [GRCh37]
Chr14:14q12
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004086.3(COCH):c.239+80del deletion not provided [RCV001650868]|not specified [RCV000037876] Chr14:30877806 [GRCh38]
Chr14:31347012 [GRCh37]
Chr14:14q12
benign|likely benign
NM_004086.3(COCH):c.197T>G (p.Val66Gly) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000006987] Chr14:30877686 [GRCh38]
Chr14:31346892 [GRCh37]
Chr14:14q12
pathogenic
NM_004086.3(COCH):c.1478-10T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000301059] Chr14:30889606 [GRCh38]
Chr14:31358812 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000340373]|not provided [RCV000755239]|not specified [RCV000506683] Chr14:30886039 [GRCh38]
Chr14:31355245 [GRCh37]
Chr14:14q12
benign|likely benign|conflicting interpretations of pathogenicity
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000006992]|Nonsyndromic genetic hearing loss [RCV000710321] Chr14:30878926 [GRCh38]
Chr14:31348132 [GRCh37]
Chr14:14q12
pathogenic|uncertain significance
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000006990]|Hearing impairment [RCV001375055]|Nonsyndromic genetic hearing loss [RCV000211754]|Rare genetic deafness [RCV000844626]|not provided [RCV001093033] Chr14:30877640 [GRCh38]
Chr14:31346846 [GRCh37]
Chr14:14q12
pathogenic|likely pathogenic
NM_004086.3(COCH):c.1553A>G (p.Glu518Gly) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000355777]|not provided [RCV000957906]|not specified [RCV000150346] Chr14:30889691 [GRCh38]
Chr14:31358897 [GRCh37]
Chr14:14q12
benign|likely benign
NM_004086.3(COCH):c.301T>A (p.Tyr101Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001114023] Chr14:30878872 [GRCh38]
Chr14:31348078 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000006993]|Rare genetic deafness [RCV000214849]|not provided [RCV001547940] Chr14:30889763 [GRCh38]
Chr14:31358969 [GRCh37]
Chr14:14q12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
NM_004086.3(COCH):c.984_985dup (p.Phe329fs) duplication Hearing loss, autosomal recessive 110 [RCV001089642] Chr14:30885817..30885818 [GRCh38]
Chr14:31355023..31355024 [GRCh37]
Chr14:14q12
pathogenic
NM_004086.3(COCH):c.266C>A (p.Pro89His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001112669] Chr14:30878837 [GRCh38]
Chr14:31348043 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.292C>T (p.Arg98Ter) single nucleotide variant Hearing loss, autosomal recessive 110 [RCV000678208]|Prelingual sensorineural hearing impairment [RCV000590999]|not provided [RCV002473025] Chr14:30878863 [GRCh38]
Chr14:31348069 [GRCh37]
Chr14:14q12
pathogenic|likely pathogenic
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000616871]|Hearing loss, autosomal recessive 110 [RCV001582722]|not provided [RCV002054369]|not specified [RCV000221727] Chr14:30885890 [GRCh38]
Chr14:31355096 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.1477+9C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000399012]|not provided [RCV002054370]|not specified [RCV000222075] Chr14:30886321 [GRCh38]
Chr14:31355527 [GRCh37]
Chr14:14q12
benign|likely benign
GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1 copy number loss See cases [RCV000143063] Chr14:30792271..44685131 [GRCh38]
Chr14:31261477..45154334 [GRCh37]
Chr14:30331228..44224084 [NCBI36]
Chr14:14q12-21.2
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_004086.3(COCH):c.1478-67T>C single nucleotide variant not provided [RCV000844294] Chr14:30889549 [GRCh38]
Chr14:31358755 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.349T>C (p.Trp117Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000006989] Chr14:30878920 [GRCh38]
Chr14:31348126 [GRCh37]
Chr14:14q12
pathogenic
NM_004086.3(COCH):c.326T>A (p.Ile109Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000006991]|not provided [RCV001532242] Chr14:30878897 [GRCh38]
Chr14:31348103 [GRCh37]
Chr14:14q12
pathogenic
NM_004086.3(COCH):c.1625G>A (p.Cys542Tyr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000006994] Chr14:30889763 [GRCh38]
Chr14:31358969 [GRCh37]
Chr14:14q12
pathogenic
NM_004086.3(COCH):c.442C>T (p.Arg148Ter) single nucleotide variant not provided [RCV000392552] Chr14:30880457 [GRCh38]
Chr14:31349663 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.263G>A (p.Gly88Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000006988] Chr14:30878834 [GRCh38]
Chr14:31348040 [GRCh37]
Chr14:14q12
pathogenic
NM_004086.3(COCH):c.373+4G>A single nucleotide variant not provided [RCV000728155]|not specified [RCV000602356] Chr14:30878948 [GRCh38]
Chr14:31348154 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.293G>A (p.Arg98Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001114022]|Inborn genetic diseases [RCV002558135]|not provided [RCV001856502] Chr14:30878864 [GRCh38]
Chr14:31348070 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.126G>A (p.Arg42=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001112667] Chr14:30877615 [GRCh38]
Chr14:31346821 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001112670]|not provided [RCV000597638]|not specified [RCV000999885] Chr14:30878843 [GRCh38]
Chr14:31348049 [GRCh37]
Chr14:14q12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004086.3(COCH):c.1026C>T (p.Tyr342=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001109987]|not provided [RCV001668620]|not specified [RCV000347231] Chr14:30885861 [GRCh38]
Chr14:31355067 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.1128C>T (p.Ser376=) single nucleotide variant not provided [RCV001537828]|not specified [RCV000601917] Chr14:30885963 [GRCh38]
Chr14:31355169 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.582G>T (p.Met194Ile) single nucleotide variant not provided [RCV001868090]|not specified [RCV000603335] Chr14:30880687 [GRCh38]
Chr14:31349893 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1159C>T (p.Leu387Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000225026] Chr14:30885994 [GRCh38]
Chr14:31355200 [GRCh37]
Chr14:14q12
pathogenic
NM_004086.3(COCH):c.437-188C>A single nucleotide variant not provided [RCV001695208] Chr14:30880264 [GRCh38]
Chr14:31349470 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.436+185G>T single nucleotide variant not provided [RCV001654067] Chr14:30879670 [GRCh38]
Chr14:31348876 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.436+246C>A single nucleotide variant not provided [RCV001598831] Chr14:30879731 [GRCh38]
Chr14:31348937 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.1477+18T>C single nucleotide variant not provided [RCV001657452] Chr14:30886330 [GRCh38]
Chr14:31355536 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.629+83A>G single nucleotide variant not provided [RCV001713769] Chr14:30880817 [GRCh38]
Chr14:31350023 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.734-226A>T single nucleotide variant not provided [RCV001654489] Chr14:30885168 [GRCh38]
Chr14:31354374 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.1591G>C (p.Glu531Gln) single nucleotide variant not provided [RCV001575681] Chr14:30889729 [GRCh38]
Chr14:31358935 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.734-62G>A single nucleotide variant not provided [RCV001578204] Chr14:30885332 [GRCh38]
Chr14:31354538 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.373+23T>C single nucleotide variant not provided [RCV001686078] Chr14:30878967 [GRCh38]
Chr14:31348173 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.1478-177T>C single nucleotide variant not provided [RCV001657038] Chr14:30889439 [GRCh38]
Chr14:31358645 [GRCh37]
Chr14:14q12
benign
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
NM_004086.3(COCH):c.961-8C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000289085] Chr14:30885788 [GRCh38]
Chr14:31354994 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000305574]|not provided [RCV000891770]|not specified [RCV000217128] Chr14:30886105 [GRCh38]
Chr14:31355311 [GRCh37]
Chr14:14q12
benign|likely benign|conflicting interpretations of pathogenicity
NM_004086.3(COCH):c.615C>T (p.Gly205=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001114024]|not provided [RCV001799735] Chr14:30880720 [GRCh38]
Chr14:31349926 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.1269C>T (p.Asp423=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000399011]|not provided [RCV000755933]|not specified [RCV000213406] Chr14:30886104 [GRCh38]
Chr14:31355310 [GRCh37]
Chr14:14q12
benign|likely benign
NM_004086.3(COCH):c.1313G>A (p.Arg438His) single nucleotide variant not provided [RCV000841244] Chr14:30886148 [GRCh38]
Chr14:31355354 [GRCh37]
Chr14:14q12
likely benign|conflicting interpretations of pathogenicity
NM_004086.3(COCH):c.83-321T>C single nucleotide variant not provided [RCV001562104] Chr14:30877251 [GRCh38]
Chr14:31346457 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.373+41C>A single nucleotide variant not provided [RCV001562773] Chr14:30878985 [GRCh38]
Chr14:31348191 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.1151G>A (p.Arg384His) single nucleotide variant not provided [RCV001568034] Chr14:30885986 [GRCh38]
Chr14:31355192 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.733+53C>G single nucleotide variant not provided [RCV001677729] Chr14:30884709 [GRCh38]
Chr14:31353915 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.846C>T (p.Ile282=) single nucleotide variant not provided [RCV001575805] Chr14:30885506 [GRCh38]
Chr14:31354712 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.1478-79G>A single nucleotide variant not provided [RCV001556389] Chr14:30889537 [GRCh38]
Chr14:31358743 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.1478-226A>C single nucleotide variant not provided [RCV001537391] Chr14:30889390 [GRCh38]
Chr14:31358596 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.118G>A (p.Asp40Asn) single nucleotide variant not provided [RCV001593455] Chr14:30877607 [GRCh38]
Chr14:31346813 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.1477+41dup duplication not provided [RCV001638775] Chr14:30886347..30886348 [GRCh38]
Chr14:31355553..31355554 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.259G>T (p.Gly87Trp) single nucleotide variant not provided [RCV001723410] Chr14:30878830 [GRCh38]
Chr14:31348036 [GRCh37]
Chr14:14q12
pathogenic|likely pathogenic
NM_004086.3(COCH):c.630-208A>C single nucleotide variant not provided [RCV001686999] Chr14:30884345 [GRCh38]
Chr14:31353551 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.239+39C>T single nucleotide variant not provided [RCV001658847] Chr14:30877767 [GRCh38]
Chr14:31346973 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.83-298G>A single nucleotide variant not provided [RCV001598738] Chr14:30877274 [GRCh38]
Chr14:31346480 [GRCh37]
Chr14:14q12
benign
GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1 copy number loss See cases [RCV000135334] Chr14:30382554..37712341 [GRCh38]
Chr14:30851760..38181546 [GRCh37]
Chr14:29921511..37251297 [NCBI36]
Chr14:14q12-21.1
pathogenic
NM_004086.3(COCH):c.260G>C (p.Gly87Ala) single nucleotide variant Rare genetic deafness [RCV000605898] Chr14:30878831 [GRCh38]
Chr14:31348037 [GRCh37]
Chr14:14q12
likely pathogenic
NM_004086.3(COCH):c.1251G>A (p.Thr417=) single nucleotide variant not provided [RCV000841871] Chr14:30886086 [GRCh38]
Chr14:31355292 [GRCh37]
Chr14:14q12
benign|likely benign
NM_004086.3(COCH):c.*10T>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000275186] Chr14:30889801 [GRCh38]
Chr14:31359007 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.482-4G>A single nucleotide variant not provided [RCV000730807] Chr14:30880583 [GRCh38]
Chr14:31349789 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1332A>G (p.Thr444=) single nucleotide variant not provided [RCV000933803] Chr14:30886167 [GRCh38]
Chr14:31355373 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.1535T>C (p.Met512Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000006995] Chr14:30889673 [GRCh38]
Chr14:31358879 [GRCh37]
Chr14:14q12
pathogenic
GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3 copy number gain See cases [RCV000052292] Chr14:30670314..44990595 [GRCh38]
Chr14:31139520..45459798 [GRCh37]
Chr14:30209271..44529548 [NCBI36]
Chr14:14q12-21.2
pathogenic
NM_004086.3(COCH):c.629+5C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000273489]|Nonsyndromic genetic hearing loss [RCV000787991]|not provided [RCV000952722]|not specified [RCV000348668] Chr14:30880739 [GRCh38]
Chr14:31349945 [GRCh37]
Chr14:14q12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000387678]|Nonsyndromic genetic hearing loss [RCV000787992]|not provided [RCV000755937]|not specified [RCV000215337] Chr14:30885501 [GRCh38]
Chr14:31354707 [GRCh37]
Chr14:14q12
benign|likely benign|uncertain significance
NM_004086.3(COCH):c.1053C>A (p.Cys351Ter) single nucleotide variant Hearing loss, autosomal recessive 110 [RCV001089547] Chr14:30885888 [GRCh38]
Chr14:31355094 [GRCh37]
Chr14:14q12
likely pathogenic
NM_004086.3(COCH):c.630-9T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000333123]|not provided [RCV000918605] Chr14:30884544 [GRCh38]
Chr14:31353750 [GRCh37]
Chr14:14q12
benign|likely benign
NM_004086.3(COCH):c.239+7C>G single nucleotide variant not specified [RCV000150345] Chr14:30877735 [GRCh38]
Chr14:31346941 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.239+78T>C single nucleotide variant not provided [RCV000843284]|not specified [RCV000154280] Chr14:30877806 [GRCh38]
Chr14:31347012 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.141T>C (p.Asp47=) single nucleotide variant not specified [RCV000155063] Chr14:30877630 [GRCh38]
Chr14:31346836 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.240-308A>G single nucleotide variant not provided [RCV001708337] Chr14:30878503 [GRCh38]
Chr14:31347709 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.345T>C (p.Ser115=) single nucleotide variant not provided [RCV001532243] Chr14:30878916 [GRCh38]
Chr14:31348122 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.629+38del deletion not provided [RCV001694252] Chr14:30880763 [GRCh38]
Chr14:31349969 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.240-239A>T single nucleotide variant not provided [RCV001665814] Chr14:30878572 [GRCh38]
Chr14:31347778 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.212C>T (p.Ser71Leu) single nucleotide variant not provided [RCV001587699] Chr14:30877701 [GRCh38]
Chr14:31346907 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1478-201_1478-198dup duplication not provided [RCV001693726] Chr14:30889414..30889415 [GRCh38]
Chr14:31358620..31358621 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.1478-220C>T single nucleotide variant not provided [RCV001650667] Chr14:30889396 [GRCh38]
Chr14:31358602 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.239+37G>A single nucleotide variant not provided [RCV001586310] Chr14:30877765 [GRCh38]
Chr14:31346971 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.734-304T>G single nucleotide variant not provided [RCV001652420] Chr14:30885090 [GRCh38]
Chr14:31354296 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.1167T>C (p.Phe389=) single nucleotide variant not provided [RCV000974114]|not specified [RCV000611157] Chr14:30886002 [GRCh38]
Chr14:31355208 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.1115T>C (p.Ile372Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001004791] Chr14:30885950 [GRCh38]
Chr14:31355156 [GRCh37]
Chr14:14q12
pathogenic
NM_004086.3(COCH):c.981C>G (p.Gly327=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000384710] Chr14:30885816 [GRCh38]
Chr14:31355022 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV000626215] Chr14:30885985 [GRCh38]
Chr14:31355191 [GRCh37]
Chr14:14q12
likely pathogenic
NM_004086.3(COCH):c.801C>T (p.Pro267=) single nucleotide variant not provided [RCV000840233] Chr14:30885461 [GRCh38]
Chr14:31354667 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.1004A>G (p.Asn335Ser) single nucleotide variant Inborn genetic diseases [RCV003362815]|not provided [RCV000522793] Chr14:30885839 [GRCh38]
Chr14:31355045 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.764T>C (p.Phe255Ser) single nucleotide variant not provided [RCV000522789]|not specified [RCV000825900] Chr14:30885424 [GRCh38]
Chr14:31354630 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.198A>T (p.Val66=) single nucleotide variant not provided [RCV000348246] Chr14:30877687 [GRCh38]
Chr14:31346893 [GRCh37]
Chr14:14q12
conflicting interpretations of pathogenicity|uncertain significance
NM_004086.3(COCH):c.167T>C (p.Leu56Pro) single nucleotide variant not provided [RCV000827256] Chr14:30877656 [GRCh38]
Chr14:31346862 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.271C>T (p.Arg91Ter) single nucleotide variant Hearing loss, autosomal recessive 110 [RCV003447518]|not provided [RCV002517536]|not specified [RCV000220930] Chr14:30878842 [GRCh38]
Chr14:31348048 [GRCh37]
Chr14:14q12
pathogenic|likely pathogenic|uncertain significance
NM_004086.3(COCH):c.786A>G (p.Val262=) single nucleotide variant not specified [RCV000609486] Chr14:30885446 [GRCh38]
Chr14:31354652 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.177C>A (p.Phe59Leu) single nucleotide variant not provided [RCV000757093] Chr14:30877666 [GRCh38]
Chr14:31346872 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1446_1452delinsTGGA (p.Gln483del) indel not provided [RCV000598955] Chr14:30886281..30886287 [GRCh38]
Chr14:31355487..31355493 [GRCh37]
Chr14:14q12
likely pathogenic
NM_004086.3(COCH):c.263G>T (p.Gly88Val) single nucleotide variant not specified [RCV000155766] Chr14:30878834 [GRCh38]
Chr14:31348040 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1562C>A (p.Ala521Asp) single nucleotide variant not provided [RCV001090523] Chr14:30889700 [GRCh38]
Chr14:31358906 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.153A>C (p.Pro51=) single nucleotide variant not provided [RCV000287205] Chr14:30877642 [GRCh38]
Chr14:31346848 [GRCh37]
Chr14:14q12
conflicting interpretations of pathogenicity|uncertain significance
NM_004086.3(COCH):c.239+77del deletion not provided [RCV001538730] Chr14:30877803 [GRCh38]
Chr14:31347009 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.731C>T (p.Thr244Ile) single nucleotide variant Usher syndrome [RCV001375187] Chr14:30884654 [GRCh38]
Chr14:31353860 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.329A>G (p.Gln110Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001329177] Chr14:30878900 [GRCh38]
Chr14:31348106 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.538C>T (p.Arg180Ter) single nucleotide variant Hearing impairment [RCV001375471] Chr14:30880643 [GRCh38]
Chr14:31349849 [GRCh37]
Chr14:14q12
likely pathogenic
NM_004086.3(COCH):c.1423G>C (p.Asp475His) single nucleotide variant Hearing impairment [RCV001375272] Chr14:30886258 [GRCh38]
Chr14:31355464 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1163A>G (p.Glu388Gly) single nucleotide variant Hearing impairment [RCV001375283] Chr14:30885998 [GRCh38]
Chr14:31355204 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.83-212G>C single nucleotide variant not provided [RCV001650456] Chr14:30877360 [GRCh38]
Chr14:31346566 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.481+43C>T single nucleotide variant not provided [RCV001593576] Chr14:30880539 [GRCh38]
Chr14:31349745 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.239+139C>T single nucleotide variant not provided [RCV001713820] Chr14:30877867 [GRCh38]
Chr14:31347073 [GRCh37]
Chr14:14q12
benign
NM_004086.3(COCH):c.389C>T (p.Thr130Ile) single nucleotide variant not provided [RCV001764904] Chr14:30879438 [GRCh38]
Chr14:31348644 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1271A>G (p.Tyr424Cys) single nucleotide variant not provided [RCV001772979] Chr14:30886106 [GRCh38]
Chr14:31355312 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.410C>A (p.Ala137Glu) single nucleotide variant not provided [RCV001763390] Chr14:30879459 [GRCh38]
Chr14:31348665 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.847G>A (p.Glu283Lys) single nucleotide variant not provided [RCV001772653] Chr14:30885507 [GRCh38]
Chr14:31354713 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1247G>A (p.Arg416His) single nucleotide variant not provided [RCV001768699] Chr14:30886082 [GRCh38]
Chr14:31355288 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1327G>T (p.Gly443Ter) single nucleotide variant not provided [RCV001774682] Chr14:30886162 [GRCh38]
Chr14:31355368 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.539G>A (p.Arg180Gln) single nucleotide variant not provided [RCV001770705] Chr14:30880644 [GRCh38]
Chr14:31349850 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1009T>C (p.Phe337Leu) single nucleotide variant Inborn genetic diseases [RCV003355548]|not provided [RCV001779874] Chr14:30885844 [GRCh38]
Chr14:31355050 [GRCh37]
Chr14:14q12
likely benign|uncertain significance
NM_004086.3(COCH):c.938A>G (p.Gln313Arg) single nucleotide variant Inborn genetic diseases [RCV003199083] Chr14:30885598 [GRCh38]
Chr14:31354804 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.341T>C (p.Leu114Pro) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 9 [RCV001799529] Chr14:30878912 [GRCh38]
Chr14:31348118 [GRCh37]
Chr14:14q12
pathogenic
NM_004086.3(COCH):c.890T>G (p.Phe297Cys) single nucleotide variant not provided [RCV001873838] Chr14:30885550 [GRCh38]
Chr14:31354756 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.760A>C (p.Lys254Gln) single nucleotide variant not provided [RCV001910526] Chr14:30885420 [GRCh38]
Chr14:31354626 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1103T>C (p.Ile368Thr) single nucleotide variant Inborn genetic diseases [RCV002561548]|not provided [RCV001987388] Chr14:30885938 [GRCh38]
Chr14:31355144 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1537G>C (p.Ala513Pro) single nucleotide variant not provided [RCV002040300] Chr14:30889675 [GRCh38]
Chr14:31358881 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1200G>A (p.Ser400=) single nucleotide variant not provided [RCV001891570] Chr14:30886035 [GRCh38]
Chr14:31355241 [GRCh37]
Chr14:14q12
likely benign|uncertain significance
NM_004086.3(COCH):c.340C>T (p.Leu114Phe) single nucleotide variant not provided [RCV002003228] Chr14:30878911 [GRCh38]
Chr14:31348117 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1360G>T (p.Val454Phe) single nucleotide variant not provided [RCV001892694] Chr14:30886195 [GRCh38]
Chr14:31355401 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1084T>A (p.Cys362Ser) single nucleotide variant not provided [RCV001969163] Chr14:30885919 [GRCh38]
Chr14:31355125 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1027G>A (p.Val343Ile) single nucleotide variant not provided [RCV001973875] Chr14:30885862 [GRCh38]
Chr14:31355068 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1157T>C (p.Met386Thr) single nucleotide variant not provided [RCV002029726] Chr14:30885992 [GRCh38]
Chr14:31355198 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1478-9T>A single nucleotide variant not provided [RCV001990821] Chr14:30889607 [GRCh38]
Chr14:31358813 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.433del (p.Thr145fs) deletion not provided [RCV002035380] Chr14:30879481 [GRCh38]
Chr14:31348687 [GRCh37]
Chr14:14q12
pathogenic
NM_004086.3(COCH):c.629+11T>G single nucleotide variant not provided [RCV002071327] Chr14:30880745 [GRCh38]
Chr14:31349951 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.909G>A (p.Lys303=) single nucleotide variant not provided [RCV002095494] Chr14:30885569 [GRCh38]
Chr14:31354775 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.794G>C (p.Gly265Ala) single nucleotide variant not provided [RCV003109927] Chr14:30885454 [GRCh38]
Chr14:31354660 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.193A>G (p.Ile65Val) single nucleotide variant not provided [RCV003145081] Chr14:30877682 [GRCh38]
Chr14:31346888 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.366_371del (p.Val123_Thr124del) deletion Autosomal dominant nonsyndromic hearing loss 9 [RCV003128376] Chr14:30878935..30878940 [GRCh38]
Chr14:31348141..31348146 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.126G>C (p.Arg42Ser) single nucleotide variant not provided [RCV002469874] Chr14:30877615 [GRCh38]
Chr14:31346821 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.630-15_630-14del deletion not provided [RCV002681811] Chr14:30884537..30884538 [GRCh38]
Chr14:31353743..31353744 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.433A>G (p.Thr145Ala) single nucleotide variant not provided [RCV002858444] Chr14:30879482 [GRCh38]
Chr14:31348688 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1554G>A (p.Glu518=) single nucleotide variant not provided [RCV002947790] Chr14:30889692 [GRCh38]
Chr14:31358898 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.332C>A (p.Ser111Tyr) single nucleotide variant Inborn genetic diseases [RCV002837187] Chr14:30878903 [GRCh38]
Chr14:31348109 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1546C>T (p.Pro516Ser) single nucleotide variant not provided [RCV002727289] Chr14:30889684 [GRCh38]
Chr14:31358890 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.960+18del deletion not provided [RCV002617295] Chr14:30885638 [GRCh38]
Chr14:31354844 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.979G>A (p.Gly327Ser) single nucleotide variant Inborn genetic diseases [RCV002882816] Chr14:30885814 [GRCh38]
Chr14:31355020 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1059T>C (p.His353=) single nucleotide variant not provided [RCV003021802] Chr14:30885894 [GRCh38]
Chr14:31355100 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.1250C>A (p.Thr417Lys) single nucleotide variant not provided [RCV002889746] Chr14:30886085 [GRCh38]
Chr14:31355291 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.493G>A (p.Asp165Asn) single nucleotide variant Inborn genetic diseases [RCV002762691] Chr14:30880598 [GRCh38]
Chr14:31349804 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1648C>A (p.Gln550Lys) single nucleotide variant Inborn genetic diseases [RCV002886946] Chr14:30889786 [GRCh38]
Chr14:31358992 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.403G>A (p.Gly135Arg) single nucleotide variant Inborn genetic diseases [RCV002980288] Chr14:30879452 [GRCh38]
Chr14:31348658 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.107C>T (p.Thr36Ile) single nucleotide variant Inborn genetic diseases [RCV002869829] Chr14:30877596 [GRCh38]
Chr14:31346802 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.729T>C (p.Asn243=) single nucleotide variant not provided [RCV002785558] Chr14:30884652 [GRCh38]
Chr14:31353858 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.96C>T (p.Ile32=) single nucleotide variant not provided [RCV003080406] Chr14:30877585 [GRCh38]
Chr14:31346791 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.282C>A (p.Ser94Arg) single nucleotide variant Inborn genetic diseases [RCV002830855] Chr14:30878853 [GRCh38]
Chr14:31348059 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1315_1377del (p.Tyr439_Gly459del) deletion not provided [RCV003059897] Chr14:30886148..30886210 [GRCh38]
Chr14:31355354..31355416 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.207T>C (p.Ser69=) single nucleotide variant not provided [RCV002701122] Chr14:30877696 [GRCh38]
Chr14:31346902 [GRCh37]
Chr14:14q12
likely benign
NM_004086.3(COCH):c.320A>G (p.Asn107Ser) single nucleotide variant not provided [RCV002601401] Chr14:30878891 [GRCh38]
Chr14:31348097 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.314A>G (p.Asp105Gly) single nucleotide variant not provided [RCV002579939] Chr14:30878885 [GRCh38]
Chr14:31348091 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1318A>G (p.Met440Val) single nucleotide variant not provided [RCV002627389] Chr14:30886153 [GRCh38]
Chr14:31355359 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.443G>A (p.Arg148Gln) single nucleotide variant Inborn genetic diseases [RCV002792759] Chr14:30880458 [GRCh38]
Chr14:31349664 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.496A>G (p.Ile166Val) single nucleotide variant not provided [RCV002576970] Chr14:30880601 [GRCh38]
Chr14:31349807 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.970C>T (p.Arg324Trp) single nucleotide variant Inborn genetic diseases [RCV002935124] Chr14:30885805 [GRCh38]
Chr14:31355011 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1139_1142dup (p.Ser381delinsArgTer) duplication not provided [RCV003063099] Chr14:30885971..30885972 [GRCh38]
Chr14:31355177..31355178 [GRCh37]
Chr14:14q12
pathogenic
NM_004086.3(COCH):c.510T>G (p.Ile170Met) single nucleotide variant Inborn genetic diseases [RCV002657182] Chr14:30880615 [GRCh38]
Chr14:31349821 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.895G>C (p.Val299Leu) single nucleotide variant Inborn genetic diseases [RCV003199932] Chr14:30885555 [GRCh38]
Chr14:31354761 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1196_1213del (p.Ile399_Ala404del) deletion not provided [RCV003332499] Chr14:30886030..30886047 [GRCh38]
Chr14:31355236..31355253 [GRCh37]
Chr14:14q12
likely pathogenic
NM_004086.3(COCH):c.1093T>C (p.Ser365Pro) single nucleotide variant Inborn genetic diseases [RCV003371274] Chr14:30885928 [GRCh38]
Chr14:31355134 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.130G>C (p.Glu44Gln) single nucleotide variant COCH-related condition [RCV003404679] Chr14:30877619 [GRCh38]
Chr14:31346825 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.149G>A (p.Cys50Tyr) single nucleotide variant not provided [RCV003442710] Chr14:30877638 [GRCh38]
Chr14:31346844 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1166T>C (p.Phe389Ser) single nucleotide variant not provided [RCV003482115] Chr14:30886001 [GRCh38]
Chr14:31355207 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.271C>G (p.Arg91Gly) single nucleotide variant not provided [RCV003425008] Chr14:30878842 [GRCh38]
Chr14:31348048 [GRCh37]
Chr14:14q12
uncertain significance
NM_004086.3(COCH):c.1440T>C (p.Asp480=) single nucleotide variant not provided [RCV003715427] Chr14:30886275 [GRCh38]
Chr14:31355481 [GRCh37]
Chr14:14q12
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:398
Count of miRNA genes:297
Interacting mature miRNAs:311
Transcripts:ENST00000468444, ENST00000555108, ENST00000555421, ENST00000556786
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


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 45 4 113 6
Low 125 59 152 42 586 40 658 55 733 20 552 134 5 33 245
Below cutoff 1820 1705 1046 384 799 247 3023 1555 2259 202 565 991 143 1021 2044 3

Sequence


RefSeq Acc Id: ENST00000468444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1430,885,465 - 30,889,698 (-)Ensembl
RefSeq Acc Id: ENST00000555108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1430,876,179 - 30,889,808 (-)Ensembl
RefSeq Acc Id: ENST00000555421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1430,884,465 - 30,885,188 (-)Ensembl
RefSeq Acc Id: ENST00000556786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1430,886,183 - 30,889,673 (-)Ensembl
RefSeq Acc Id: ENST00000661204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1430,876,186 - 30,885,876 (-)Ensembl
RefSeq Acc Id: NR_038356
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,876,179 - 30,889,808 (-)NCBI
T2T-CHM13v2.01425,073,664 - 25,087,293 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC AL049830.3 COSMIC
Ensembl Genes ENSG00000258525 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000555108 ENTREZGENE
GTEx ENSG00000258525 GTEx
Human Proteome Map AL049830.3 Human Proteome Map
NCBI Gene LOC100506071 ENTREZGENE
RNAcentral URS000050195F RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-06-25 AL049830.3  novel transcript, antisense to COCH  LOC100506071  uncharacterized LOC100506071  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC100506071  uncharacterized LOC100506071  AL049830.3  novel transcript, antisense to COCH  Symbol and/or name change 5135510 APPROVED