RGD:156012192 Rat Genome Database

Variant: RGD:156012192 - Homo sapiens

RGD ID:

156012192

ClinVar ID:

CV2358866

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LRRC71

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	156,899,483
GRCh38	1	156,929,691

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
NM_144702.3:c.1202C>A NC_000001.11:g.156929691C>A NC_000001.10:g.156899483C>A NM_144702.2:c.1202C>A NP_653303.2:p.Thr401Asn More...	12/19/2022	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	LRRC71
Accession:	XM_005244926
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	401

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSEQSAPGASPRAPRPGTQKSSGAVTKKGERAAKEKPATVLPPVGEEEPKSPEEYQCSGVLETDFAELCTRWGYTDFPK VVNRPRPHPPFVPSASLSEKATLDDPRLSGSCSLNSLESKYVFFRPTIQVELEQEDSKSVKEIYIRGWKVEERILGVFSK CLPPLTQLQAINLWKVGLTDKTLTTFIELLPLCSSTLRKVSLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLL GQALSTLHSCNRTLVSLNLGFNHIGDEGAGYIADGLRLNRSLLWLSLAHNRIQDKGALKLAEVLRAFELTHTEVVERRRL LLEKGTQERSRSPSSSRHGDSKTDREKSQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQG NPKKEDATKAGKGKVTIPEQKPSRAKGIKIGSREKRSILLESEQLVVEATEVVNPLLEPVEHRDGKVFMPGNKVLLHLNL IRNRITEVGLEGFLATVQYQMQFSKAKSASKGPVGLLWLSLAKNCFAPQCPAYAIIQELMLPRDPIKAKLREDEAMAFFP *

Gene Symbol:	LRRC71
Accession:	XM_011509240
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALDSTIAHLSLRNNNIDDRGAQLLGQALSTLHSCNRTLVSLNLGFNHIGDEGAGYIADGLRLNRSLLWLSLAHNRIQDK GALKLAEVLRAFELTHTEVVERRRLLLEKGTQERSRSPSSSRHGDSKTDREKSQMVGISNSALVDKTDKTQTMKTPKGLG KKKEKSWELAKKEEKLGSGQSPTQGNPKKEDATKAGKGKVTIPEQKPSRAKGIKIGSREKRSILLESEQLVVEATEVVNP LLEPVEHRDGKVFMPGNKVLLHLNLIRNRITEVGLEGFLATVQYQMQFSKAKSASKGPVGLLWLSLAKNCFAPQCPAYAI IQELMLPRDPIKAKLREDEAMAFFP*

Gene Symbol:	LRRC71
Accession:	XM_017000462
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALDSTIAHLSLRNNNIDDRGAQLLGQALSTLHSCNRTLVSLNLGFNHIGDEGAGYIADGLRLNRSLLWLSLAHNRIQDK GALKLAEVLRAFELTHTEVVERRRLLLEKGTQERSRSPSSSRHGDSKTDREKSQMVGISNSALVDKTDKTQTMKTPKGLG KKKEKSWELAKKEEKLGSGQSPTQGNPKKEDATKAGKGKVTIPEQKPSRAKGIKIGSREKRSILLESEQLVVEATEVVNP LLEPVEHRDGKVFMPGNKVLLHLNLIRNRITEVGLEGFLATVQYQMQFSKAKSASKGPVGLLWLSLAKNCFAPQCPAYAI IQELMLPRDPIKAKLREDEAMAFFP*

Gene Symbol:	LRRC71
Accession:	XM_047447421
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	215

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFCSLEISPALRKVSLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLLGQALSTLHSCNRTLVSLNLGFNHIGD EGAGYIADGLRLNRSLLWLSLAHNRIQDKGALKLAEVLRAFELTHTEVVERRRLLLEKGTQERSRSPSSSRHGDSKTDRE KSQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQGNPKKEDATKAGKGKVTIPEQKPSRAK GIKIGSREKRSILLESEKNCFAPQCPAYAIIQELMLPRDPIKAKLREDEAMAFFP*

Gene Symbol:	LRRC71
Accession:	XM_006711185
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	374

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRRNYRSWRNNIFWKGRQDSIQSPTEEYQCSGVLETDFAELCTRWGYTDFPKVVNRPRPHPPFVPSASLSEKATLDDPR LSGSCSLNSLESKYVFFRPTIQVELEQEDSKSVKEIYIRGWKVEERILGVFSKCLPPLTQLQAINLWKVGLTDKTLTTFI ELLPLCSSTLRKVSLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLLGQALSTLHSCNRTLVSLNLGFNHIGDE GAGYIADGLRLNRSLLWLSLAHNRIQDKGALKLAEVLRAFELTHTEVVERRRLLLEKGTQERSRSPSSSRHGDSKTDREK SQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQGNPKKEDATKAGKGKVTIPEQKPSRAKG IKIGSREKRSILLESEQLVVEATEVVNPLLEPVEHRDGKVFMPGNKVLLHLNLIRNRITEVGLEGFLATVQYQMQFSKAK SASKGPVGLLWLSLAKNCFAPQCPAYAIIQELMLPRDPIKAKLREDEAMAFFP*

Gene Symbol:	LRRC71
Accession:	XM_011509239
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	215

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFCSLEISPALRKVSLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLLGQALSTLHSCNRTLVSLNLGFNHIGD EGAGYIADGLRLNRSLLWLSLAHNRIQDKGALKLAEVLRAFELTHTEVVERRRLLLEKGTQERSRSPSSSRHGDSKTDRE KSQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQGNPKKEDATKAGKGKVTIPEQKPSRAK GIKIGSREKRSILLESEQLVVEATEVVNPLLEPVEHRDGKVFMPGNKVLLHLNLIRNRITEVGLEGFLATVQYQMQFSKA KSASKGPVGLLWLSLAKNCFAPQCPAYAIIQELMLPRDPIKAKLREDEAMAFFP*

Gene Symbol:	LRRC71
Accession:	XM_047447397
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	374

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRRNYRSWRNNIFWKGRQDSIQSPTEEYQCSGVLETDFAELCTRWGYTDFPKVVNRPRPHPPFVPSASLSEKATLDDPR LSGSCSLNSLESKYVFFRPTIQVELEQEDSKSVKEIYIRGWKVEERILGVFSKCLPPLTQLQAINLWKVGLTDKTLTTFI ELLPLCSSTLRKVSLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLLGQALSTLHSCNRTLVSLNLGFNHIGDE GAGYIADGLRLNRSLLWLSLAHNRIQDKGALKLAEVLRAFELTHTEVVERRRLLLEKGTQERSRSPSSSRHGDSKTDREK SQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQGNPKKEDATKAGKGKVTIPEQKPSRAKG IKIGSREKRSILLESEQLVVEATEVVNPLLEPVEHRDGKVFMPGNKVLLHLNLIRNRITEVGLEGFLATVQYQMQFSKAK SASKGPVGLLWLSLAKNCFAPQCPAYAIIQELMLPRDPIKAKLREDEAMAFFP*

Gene Symbol:	LRRC71
Accession:	XM_017000459
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	401

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSEQSAPGASPRAPRPGTQKSSGAVTKKGERAAKEKPATVLPPVGEEEPKSPEEYQCSGVLETDFAELCTRWGYTDFPK VVNRPRPHPPFVPSASLSEKATLDDPRLSGSCSLNSLESKYVFFRPTIQVELEQEDSKSVKEIYIRGWKVEERILGVFSK CLPPLTQLQAINLWKVGLTDKTLTTFIELLPLCSSTLRKVSLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLL GQALSTLHSCNRTLVSLNLGFNHIGDEGAGYIADGLRLNRSLLWLSLAHNRIQDKGALKLAEVLRAFELTHTEVVERRRL LLEKGTQERSRSPSSSRHGDSKTDREKSQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQG NPKKEDATKAGKGKVTIPEQKPSRAKGIKIGSREKRSILLESE*

Gene Symbol:	LRRC71
Accession:	XM_005244928
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	401

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSEQSAPGASPRAPRPGTQKSSGAVTKKGERAAKEKPATVLPPVGEEEPKSPEEYQCSGVLETDFAELCTRWGYTDFPK VVNRPRPHPPFVPSASLSEKATLDDPRLSGSCSLNSLESKYVFFRPTIQVELEQEDSKSVKEIYIRGWKVEERILGVFSK CLPPLTQLQAINLWKVGLTDKTLTTFIELLPLCSSTLRKVSLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLL GQALSTLHSCNRTLVSLNLGFNHIGDEGAGYIADGLRLNRSLLWLSLAHNRIQDKGALKLAEVLRAFELTHTEVVERRRL LLEKGTQERSRSPSSSRHGDSKTDREKSQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQG NPKKEDATKAGKGKVTIPEQKPSRAKGIKIGSREKRSILLESEKNCFAPQCPAYAIIQELMLPRDPIKAKLREDEAMAFF P*

Gene Symbol:	LRRC71
Accession:	XM_006711187
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	401

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSEQSAPGASPRAPRPGTQKSSGAVTKKGERAAKEKPATVLPPVGEEEPKSPEEYQCSGVLETDFAELCTRWGYTDFPK VVNRPRPHPPFVPSASLSEKATLDDPRLSGSCSLNSLESKYVFFRPTIQVELEQEDSKSVKEIYIRGWKVEERILGVFSK CLPPLTQLQAINLWKVGLTDKTLTTFIELLPLCSSTLRKVSLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLL GQALSTLHSCNRTLVSLNLGFNHIGDEGAGYIADGLRLNRSLLWLSLAHNRIQDKGALKLAEVLRAFELTHTEVVERRRL LLEKGTQERSRSPSSSRHGDSKTDREKSQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQG NPKKEDATKAGKGKVTIPEQKPSRAKGIKIGSREKRSILLESELVVEATEVVNPLLEPVEHRDGKVFMPGNKGTASQRWG WRASSPRCSIRCSSPRPRVHPRVQWGCCGCPWLKIASPHNVLRTP*

Gene Symbol:	LRRC71
Accession:	NM_144702
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	401

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSEQSAPGASPRAPRPGTQKSSGAVTKKGERAAKEKPATVLPPVGEEEPKSPEEYQCSGVLETDFAELCTRWGYTDFPK VVNRPRPHPPFVPSASLSEKATLDDPRLSGSCSLNSLESKYVFFRPTIQVELEQEDSKSVKEIYIRGWKVEERILGVFSK CLPPLTQLQAINLWKVGLTDKTLTTFIELLPLCSSTLRKVSLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLL GQALSTLHSCNRTLVSLNLGFNHIGDEGAGYIADGLRLNRSLLWLSLAHNRIQDKGALKLAEVLRAFELTHTEVVERRRL LLEKGTQERSRSPSSSRHGDSKTDREKSQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQG NPKKEDATKAGKGKVTIPEQKPSRAKGIKIGSREKRSILLESELVVEATEVVNPLLEPVEHRDGKVFMPGNKVLLHLNLI RNRITEVGLEGFLATVQYQMQFSKAKSASKGPVGLLWLSLAKNCFAPQCPAYAIIQELMLPRDPIKAKLREDEAMAFFP*

Gene Symbol:	LRRC71
Accession:	XM_005244927
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	401

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSEQSAPGASPRAPRPGTQKSSGAVTKKGERAAKEKPATVLPPVGEEEPKSPEEYQCSGVLETDFAELCTRWGYTDFPK VVNRPRPHPPFVPSASLSEKATLDDPRLSGSCSLNSLESKYVFFRPTIQVELEQEDSKSVKEIYIRGWKVEERILGVFSK CLPPLTQLQAINLWKVGLTDKTLTTFIELLPLCSSTLRKVSLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLL GQALSTLHSCNRTLVSLNLGFNHIGDEGAGYIADGLRLNRSLLWLSLAHNRIQDKGALKLAEVLRAFELTHTEVVERRRL LLEKGTQERSRSPSSSRHGDSKTDREKSQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQG NPKKEDATKAGKGKVTIPEQKPSRAKGIKIGSREKRSILLESEGTASQRWGWRASSPRCSIRCSSPRPRVHPRVQWGCCG CPWLKIASPHNVLRTP*

Gene Symbol:	LRRC71
Accession:	XM_006711186
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	401

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSEQSAPGASPRAPRPGTQKSSGAVTKKGERAAKEKPATVLPPVGEEEPKSPEEYQCSGVLETDFAELCTRWGYTDFPK VVNRPRPHPPFVPSASLSEKATLDDPRLSGSCSLNSLESKYVFFRPTIQVELEQEDSKSVKEIYIRGWKVEERILGVFSK CLPPLTQLQAINLWKVGLTDKTLTTFIELLPLCSSTLRKVSLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLL GQALSTLHSCNRTLVSLNLGFNHIGDEGAGYIADGLRLNRSLLWLSLAHNRIQDKGALKLAEVLRAFELTHTEVVERRRL LLEKGTQERSRSPSSSRHGDSKTDREKSQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQG NPKKEDATKAGKGKVTIPEQKPSRAKGIKIGSREKRSILLESEQLVVEATEVVNPLLEPVEHRDGKVFMPGNKGTASQRW GWRASSPRCSIRCSSPRPRVHPRVQWGCCGCPWLKIASPHNVLRTP*

Gene Symbol:	LRRC71
Accession:	XM_047447420
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	215

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFCSLEISPALRKVSLEGNPLPEQSYHKLMALDSTIAHLSLRNNNIDDRGAQLLGQALSTLHSCNRTLVSLNLGFNHIGD EGAGYIADGLRLNRSLLWLSLAHNRIQDKGALKLAEVLRAFELTHTEVVERRRLLLEKGTQERSRSPSSSRHGDSKTDRE KSQMVGISNSALVDKTDKTQTMKTPKGLGKKKEKSWELAKKEEKLGSGQSPTQGNPKKEDATKAGKGKVTIPEQKPSRAK GIKIGSREKRSILLESEGTASQRWGWRASSPRCSIRCSSPRPRVHPRVQWGCCGCPWLKIASPHNVLRTP*

Gene Symbol:	LRRC71
Accession:	XM_011509241
Location:	INTRON

Gene Symbol:	LRRC71
Accession:	XM_047447415
Location:	INTRON

Gene Symbol:	LRRC71
Accession:	XR_241072
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004212210	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	LRRC71	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)

Create Name:

Description:

Send us a Message

Variant: RGD:156012192 - Homo sapiens