rs143923730 Rat Genome Database

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Variant: rs143923730 - Homo sapiens

RGD ID:

11616722

RS ID:

rs143923730

ClinVar ID:

CV325686

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

USH1C

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	17,539,012
GRCh38	11	17,517,465

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000011.10:g.17517465C>T NC_000011.9:g.17539012C>T NP_005700.2:p.Gly407Glu NM_001297764.2:c.1163G>A More...	01/28/2024	intron variant	benign\|likely benign\|uncertain significance	AllHighlyPenetrant; none provided; Usher syndrome, Acadian variety; USHER SYNDROME, TYPE I, ACADIAN VARIETY

Disease Annotations Click to see Annotation Detail View

Usher syndrome type 1C (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	USH1C
Accession:	XM_017017072
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	407

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR KPKYDQEVEPELEPADDLDGGTEEQGEQKGKDKKKAKYGSLQDLRKNKKELEFEQKLYKEKEEMLEKEKQLKINRLAQEV SETEREDLEESEKIQYWVERLCQTRLEQISSADNEISEMTTGPPPPPPSVSPLAPPLRRFAGGLHLHTTDLDDIPLDMFY YPPKTPSALPVMPHPPPSNPPHKVPAPPVLPLSGHVSASSSPWVQRTPPPIPIPPPPSVPTQDLTPTRPLPSALEEALSN HPFRTGDTGNPVEDWEAKNHSGKPTNSPVPEQSFPPTPKECPLRVHVWTSCMYMVVLTDFEVLYCMVNGLGPLG*

Gene Symbol:	USH1C
Accession:	XM_047426219
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	407

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR KPKYDQEVEPELEPADDLDGGTEEQGEQLLDGFIVTMANSQPSGRISGNMRKALTPTLCSPQSRSWGRMSGSYASRRRDP *

Gene Symbol:	USH1C
Accession:	NM_001297764
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	388

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMER QRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQEVEPELEPADDLD GGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKG DEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF*

Gene Symbol:	USH1C
Accession:	XM_017017074
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	407

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR KPKYDQEVEPELEPADDLDGGTEEQGEQKGKDKKKAKYGSLQDLRKNKKELEFEQKLYKEKEEMLEKEKQLKINRLAQEV SETEREDLEESEKIQYWVERLCQTRLEQISSADNEISEECPLRVHVWTSCMYMVVLTDFEVLYCMVNGLGPLG*

Gene Symbol:	USH1C
Accession:	XM_047426222
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	407

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR KPKYDQEVEPELEPADDLDGGTEEQGEQLLDGFIVTMANSQPSGRKEKIRRKPSMAACRT*

Gene Symbol:	USH1C
Accession:	XM_011519832
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	407

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR KPKYDQEVEPELEPADDLDGGTEEQGEQKGKDKKKAKYGSLQDLRKNKKELEFEQKLYKEKEEMLEKEKQLKINRLAQED FRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKI VTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF*

Gene Symbol:	USH1C
Accession:	XM_011519834
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	407

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR KPKYDQEVEPELEPADDLDGGTEEQGEQLLDGFIVTMANSQPSGRAVRDSLSPSSWNAKSPGNASGYPWP*

Gene Symbol:	USH1C
Accession:	XM_047426221
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	388

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMER QRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQEVEPELEPADDLD GGTEEQGEQLLDGFIVTMANSQPSGRISGNMRKALTPTLCSPQSRSWGRMSGSYASRRRDP*

Gene Symbol:	USH1C
Accession:	XM_017017073
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	388

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMER QRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQEVEPELEPADDLD GGTEEQGEQKGKDKKKAKYGSLQDLRKNKKELEFEQKLYKEKEEMLEKEKQLKINRLAQEVSETEREDLEESEKIQYWVE RLCQTRLEQISSADNEISEMTTGPPPPPPSVSPLAPPLRRFAGGLHLHTTDLDDIPLDMFYYPPKTPSALPVMPHPPPSN PPHKVPAPPVLPLSGHVSASSSPWVQRTPPPIPIPPPPSVPTQDLTPTRPLPSALEEALSNHPFRTGDTGNPVEDWEAKN HSGKPTNSPVPEQSFPPTPKECPLRVHVWTSCMYMVVLTDFEVLYCMVNGLGPLG*

Gene Symbol:	USH1C
Accession:	NM_005709
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	407

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR KPKYDQEVEPELEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVV VSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF*

Gene Symbol:	USH1C
Accession:	XM_047426220
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	407

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPR RSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTV SIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQ KRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLR KPKYDQEVEPELEPADDLDGGTEEQGEQLLDGFIVTMANSQPSGRAVRDSLSPSSWNAKSPGNAKRKR*

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

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000297479	CLINVAR
	RCV000914270	CLINVAR
	RCV001700046	CLINVAR
dbSNP (RS)	rs143923730	CLINVAR
MedGen	C1848604	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	USH1C	CLINVAR
OMIM	276904	CLINVAR
	605242	CLINVAR

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

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

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

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

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Variant: rs143923730 - Homo sapiens

Imported Disease Annotations - ClinVar