RGD:14734945 Rat Genome Database

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Variant: RGD:14734945 -  Homo sapiens

RGD ID: 14734945
RS ID: rs1244378437
ClinVar ID: CV639832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USH1C  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 17,538,962
GRCh38 11 17,517,415
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_153676.4:c.1211-1125G>T
NM_001297764.2:c.1213G>T
NM_005709.4:c.1270G>T
NG_011883.2:g.32002G>T
More... 		07/14/2021 intron variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:USH1C
Accession:XM_017017074
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR
RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV
SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH
VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ
KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR
KPKYDQGVEPELEPADDLDGGTE*QGEQKGKDKKKAKYGSLQDLRKNKKELEFEQKLYKEKEEMLEKEKQLKINRLAQEV
SETEREDLEESEKIQYWVERLCQTRLEQISSADNEISEECPLRVHVWTSCMYMVVLTDFEVLYCMVNGLGPLG*

Gene Symbol:USH1C
Accession:XM_017017072
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR
RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV
SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH
VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ
KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR
KPKYDQGVEPELEPADDLDGGTE*QGEQKGKDKKKAKYGSLQDLRKNKKELEFEQKLYKEKEEMLEKEKQLKINRLAQEV
SETEREDLEESEKIQYWVERLCQTRLEQISSADNEISEMTTGPPPPPPSVSPLAPPLRRFAGGLHLHTTDLDDIPLDMFY
YPPKTPSALPVMPHPPPSNPPHKVPAPPVLPLSGHVSASSSPWVQRTPPPIPIPPPPSVPTQDLTPTRPLPSALEEALSN
HPFRTGDTGNPVEDWEAKNHSGKPTNSPVPEQSFPPTPKECPLRVHVWTSCMYMVVLTDFEVLYCMVNGLGPLG*

Gene Symbol:USH1C
Accession:XM_047426221
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 405
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR
RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV
SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH
VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMER
QRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLD
GGTE*QGEQLLDGFIVTMANSQPSGRISGNMRKALTPTLCSPQSRSWGRMSGSYASRRRDP*

Gene Symbol:USH1C
Accession:XM_047426222
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR
RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV
SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH
VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ
KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR
KPKYDQGVEPELEPADDLDGGTE*QGEQLLDGFIVTMANSQPSGRKEKIRRKPSMAACRT*

Gene Symbol:USH1C
Accession:XM_047426219
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR
RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV
SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH
VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ
KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR
KPKYDQGVEPELEPADDLDGGTE*QGEQLLDGFIVTMANSQPSGRISGNMRKALTPTLCSPQSRSWGRMSGSYASRRRDP
*

Gene Symbol:USH1C
Accession:XM_011519832
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR
RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV
SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH
VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ
KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR
KPKYDQGVEPELEPADDLDGGTE*QGEQKGKDKKKAKYGSLQDLRKNKKELEFEQKLYKEKEEMLEKEKQLKINRLAQED
FRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKI
VTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF*

Gene Symbol:USH1C
Accession:NM_005709
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR
RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV
SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH
VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ
KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR
KPKYDQGVEPELEPADDLDGGTE*QGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVV
VSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF*

Gene Symbol:USH1C
Accession:NM_001297764
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 405
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR
RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV
SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH
VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMER
QRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLD
GGTE*QGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKG
DEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF*

Gene Symbol:USH1C
Accession:XM_017017073
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 405
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR
RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV
SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH
VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMER
QRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLD
GGTE*QGEQKGKDKKKAKYGSLQDLRKNKKELEFEQKLYKEKEEMLEKEKQLKINRLAQEVSETEREDLEESEKIQYWVE
RLCQTRLEQISSADNEISEMTTGPPPPPPSVSPLAPPLRRFAGGLHLHTTDLDDIPLDMFYYPPKTPSALPVMPHPPPSN
PPHKVPAPPVLPLSGHVSASSSPWVQRTPPPIPIPPPPSVPTQDLTPTRPLPSALEEALSNHPFRTGDTGNPVEDWEAKN
HSGKPTNSPVPEQSFPPTPKECPLRVHVWTSCMYMVVLTDFEVLYCMVNGLGPLG*

Gene Symbol:USH1C
Accession:XM_047426220
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR
RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV
SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH
VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ
KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR
KPKYDQGVEPELEPADDLDGGTE*QGEQLLDGFIVTMANSQPSGRAVRDSLSPSSWNAKSPGNAKRKR*

Gene Symbol:USH1C
Accession:XM_011519834
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR
RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV
SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH
VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ
KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR
KPKYDQGVEPELEPADDLDGGTE*QGEQLLDGFIVTMANSQPSGRAVRDSLSPSSWNAKSPGNASGYPWP*

Gene Symbol:USH1C
Accession:NM_153676
Location:INTRON

Gene Symbol:USH1C
Accession:XM_017017075
Location:INTRON

Gene Symbol:USH1C
Accession:NR_123738
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:10973247   PMID:17407589   PMID:20301442   PMID:21203349   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000819367 CLINVAR
dbSNP (RS) rs1244378437 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene USH1C CLINVAR
OMIM 605242 CLINVAR