RGD:28870360 Rat Genome Database

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Variant: RGD:28870360 -  Homo sapiens

RGD ID: 28870360
RS ID: rs1769680029
ClinVar ID: CV896959
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LCA5  LOC100506851  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 80,196,782
GRCh38 6 79,487,065
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.11:g.80196782T>G
NM_181714.3:c.2033A>C
NP_001116241.1:p.Lys678Thr
NM_001122769.3:c.2033A>C
More... 		01/13/2018 missense variant uncertain significance Amaurosis congenita of Leber, type 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LCA5
Accession:NM_181714
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 678
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQVHHQAPRKPSPKGLPNRKGVR
VGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVSELQVKLAELLKENKSLKRLQYRQEKALNKFEDAENEISQL
IFRHNNEITALKERLRKSQEKERATEKRVKDTESELFRTKFSLQKLKEISEARHLPERDDLAKKLVSAELKLDDTERRIK
ELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQRLYHKLKEKERELDIKNIYSNRLPKSSPNKEKELALRKNAA
CQSDFADLCTKGVQTMEDFKPEEYPLTPETIMCYENKWEEPGHLTLDLQSQKQDRHGEAGILNPIMEREEKFVTDEELHV
VKQEVEKLEDEWEREELDKKQKEKASLLEREEKPEWETGRYQLGMYPIQNMDKLQGEEEERLKREMLLAKLNEIDRELQD
SRNLKYPVLPLLPDFESKLHSPERSPKTYRFSESSERLFNGHHLQDISFSTPKGEGQNSGNVRSPASPNEFAFGSYVPSF
AKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEKKANLMEQLFGASGSSTISSKSSDPNSVASSKGDIDPLNFL
PGNKGSRDQEHDEDEGFFLSEGRSFNPNRHRLKHADDTPAVKAADSVEDEIEEVALR*

Gene Symbol:LCA5
Accession:NM_001122769
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 678
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQVHHQAPRKPSPKGLPNRKGVR
VGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVSELQVKLAELLKENKSLKRLQYRQEKALNKFEDAENEISQL
IFRHNNEITALKERLRKSQEKERATEKRVKDTESELFRTKFSLQKLKEISEARHLPERDDLAKKLVSAELKLDDTERRIK
ELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQRLYHKLKEKERELDIKNIYSNRLPKSSPNKEKELALRKNAA
CQSDFADLCTKGVQTMEDFKPEEYPLTPETIMCYENKWEEPGHLTLDLQSQKQDRHGEAGILNPIMEREEKFVTDEELHV
VKQEVEKLEDEWEREELDKKQKEKASLLEREEKPEWETGRYQLGMYPIQNMDKLQGEEEERLKREMLLAKLNEIDRELQD
SRNLKYPVLPLLPDFESKLHSPERSPKTYRFSESSERLFNGHHLQDISFSTPKGEGQNSGNVRSPASPNEFAFGSYVPSF
AKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEKKANLMEQLFGASGSSTISSKSSDPNSVASSKGDIDPLNFL
PGNKGSRDQEHDEDEGFFLSEGRSFNPNRHRLKHADDTPAVKAADSVEDEIEEVALR*

Gene Symbol:LCA5
Accession:XM_005248665
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 678
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQVHHQAPRKPSPKGLPNRKGVR
VGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVSELQVKLAELLKENKSLKRLQYRQEKALNKFEDAENEISQL
IFRHNNEITALKERLRKSQEKERATEKRVKDTESELFRTKFSLQKLKEISEARHLPERDDLAKKLVSAELKLDDTERRIK
ELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQRLYHKLKEKERELDIKNIYSNRLPKSSPNKEKELALRKNAA
CQSDFADLCTKGVQTMEDFKPEEYPLTPETIMCYENKWEEPGHLTLDLQSQKQDRHGEAGILNPIMEREEKFVTDEELHV
VKQEVEKLEDEWEREELDKKQKEKASLLEREEKPEWETGRYQLGMYPIQNMDKLQGEEEERLKREMLLAKLNEIDRELQD
SRNLKYPVLPLLPDFESKLHSPERSPKTYRFSESSERLFNGHHLQDISFSTPKGEGQNSGNVRSPASPNEFAFGSYVPSF
AKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEKKANLMEQLFGASGSSTISSKSSDPNSVASSKGDIDPLNFL
PGNKGSRDQEHDEDEGFFLSEGRSFNPNRHRLKHADDTPAVKAADSVEDEIEEVALR*

Gene Symbol:LCA5
Accession:XM_011535504
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 678
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQVHHQAPRKPSPKGLPNRKGVR
VGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVSELQVKLAELLKENKSLKRLQYRQEKALNKFEDAENEISQL
IFRHNNEITALKERLRKSQEKERATEKRVKDTESELFRTKFSLQKLKEISEARHLPERDDLAKKLVSAELKLDDTERRIK
ELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQRLYHKLKEKERELDIKNIYSNRLPKSSPNKEKELALRKNAA
CQSDFADLCTKGVQTMEDFKPEEYPLTPETIMCYENKWEEPGHLTLDLQSQKQDRHGEAGILNPIMEREEKFVTDEELHV
VKQEVEKLEDEWEREELDKKQKEKASLLEREEKPEWETGRYQLGMYPIQNMDKLQGEEEERLKREMLLAKLNEIDRELQD
SRNLKYPVLPLLPDFESKLHSPERSPKTYRFSESSERLFNGHHLQDISFSTPKGEGQNSGNVRSPASPNEFAFGSYVPSF
AKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEKKANLMEQLFGASGSSTISSKSSDPNSVASSKGDIDPLNFL
PGNKGSRDQEHDEDEGFFLSEGRSFNPNRHRLKHADDTPAVKAADSVEDEIEEVALR*

Gene Symbol:LCA5
Accession:XM_047418251
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 678
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQVHHQAPRKPSPKGLPNRKGVR
VGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVSELQVKLAELLKENKSLKRLQYRQEKALNKFEDAENEISQL
IFRHNNEITALKERLRKSQEKERATEKRVKDTESELFRTKFSLQKLKEISEARHLPERDDLAKKLVSAELKLDDTERRIK
ELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQRLYHKLKEKERELDIKNIYSNRLPKSSPNKEKELALRKNAA
CQSDFADLCTKGVQTMEDFKPEEYPLTPETIMCYENKWEEPGHLTLDLQSQKQDRHGEAGILNPIMEREEKFVTDEELHV
VKQEVEKLEDEWEREELDKKQKEKASLLEREEKPEWETGRYQLGMYPIQNMDKLQGEEEERLKREMLLAKLNEIDRELQD
SRNLKYPVLPLLPDFESKLHSPERSPKTYRFSESSERLFNGHHLQDISFSTPKGEGQNSGNVRSPASPNEFAFGSYVPSF
AKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEKKANLMEQLFGASGSSTISSKSSDPNSVASSKGDIDPLNFL
PGNKGSRDQEHDEDEGFFLSEGRSFNPNRHRLKHADDTPAVKAADSVEDEIEEVALR*

Gene Symbol:LOC100506851
Accession:XR_001744215
Location:INTRON;NON-CODING

Gene Symbol:LOC100506851
Accession:XR_942711
Location:INTRON;NON-CODING

Gene Symbol:LOC100506851
Accession:XR_001744213
Location:INTRON;NON-CODING

Gene Symbol:LOC100506851
Accession:XR_001744214
Location:INTRON;NON-CODING

Gene Symbol:LOC100506851
Accession:XR_942713
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001163487 CLINVAR
dbSNP (RS) rs1769680029 CLINVAR
MedGen C1858301 CLINVAR
NCBI Gene LCA5 CLINVAR
OMIM 604537 CLINVAR
  611408 CLINVAR