RGD:13814984 Rat Genome Database

Variant: RGD:13814984 - Homo sapiens

RGD ID:

13814984

RS ID:

rs1310394018

ClinVar ID:

CV569776

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LDB3 LOC110121486

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	88,447,011
GRCh38	10	86,687,254

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_001368064.1:c.690-4642A>G NM_001171610.2:c.875A>G NM_001171611.2:c.875A>G NP_001354997.1:p.Gln177Arg More...	09/01/2021	intron variant	uncertain significance	Myofibrillar myopathy, ZASP-related; Zaspopathy (type)

Disease Annotations Click to see Annotation Detail View

myofibrillar myopathy 4 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	LDB3
Accession:	NM_001171610
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	292

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTL QKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASD PGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGADYQERFNPS ALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQARGSDFSGSLPIKDLAVDSASPVYQAVIKS QNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSRPQASSYSPAVAASSAPATHTSYSEGPAAPAPKP RVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSV AYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQVPPLARGTVQRAERFPASSRTPLCGHCN NVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFV CAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDR PLCKKHAHTINL*

Gene Symbol:	LDB3
Accession:	NM_001368067
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	177

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTL QKSKRPIPISTTAPPVQTPLPVIPHQKVVVNSPANADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISM YSQDAIMDAIAGQAQARGSDFSGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFM QDPDEEALRRSRERFETERNSPRFAKLRNWHHGLSAQILNVKS*

Gene Symbol:	LDB3
Accession:	NM_001171611
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	292

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTL QKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASD PGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGADYQERFNPS ALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQARGSDFSGSLPIKDLAVDSASPVYQAVIKS QNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSRERFETERNSPRFAKLRNWHHGLSAQILNVKS*

Gene Symbol:	LDB3
Accession:	NM_001080116
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	177

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTL QKSKRPIPISTTAPPVQTPLPVIPHQKVVVNSPANADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISM YSQDAIMDAIAGQAQARGSDFSGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFM QDPDEEALRRSRERFETERNSPRFAKLRNWHHGLSAQILNVKS*

Gene Symbol:	LDB3
Accession:	NM_001368068
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	177

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTL QKSKRPIPISTTAPPVQTPLPVIPHQKVVVNSPANADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISM YSQDAIMDAIAGQAQARGSDFSGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFM QDPDEEALRRSRERFETERNSPRFAKLRNWHHGLSAQILNVKS*

Gene Symbol:	LDB3
Accession:	NM_001368066
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	177

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTL QKSKRPIPISTTAPPVQTPLPVIPHQKVVVNSPANADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISM YSQDAIMDAIAGQAQARGSDFSGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFM QDPDEEALRRSSTPIEHAPVCTSQATTPLLPASAQPPAAASPSAASPPLATAAAHTAIASASTTAPASSPADSPRPQASS YSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTP SPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQ VPPLARGTVQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFA PLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALG HTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKKHAHTINL*

Gene Symbol:	LDB3
Accession:	NM_001080114
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	177

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTL QKSKRPIPISTTAPPVQTPLPVIPHQKVVVNSPANADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISM YSQDAIMDAIAGQAQARGSDFSGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFM QDPDEEALRRSRPQASSYSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYT PSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSIS KQTLPRGGPAYTPAGPQVPPLARGTVQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFV EEQNNVYCERCYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCH GCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKKHAHTINL*

Gene Symbol:	LDB3
Accession:	NM_001080115
Location:	INTRON

Gene Symbol:	LDB3
Accession:	NM_001368064
Location:	INTRON

Gene Symbol:	LDB3
Accession:	NM_001368063
Location:	INTRON

Gene Symbol:	LDB3
Accession:	NM_007078
Location:	INTRON

Gene Symbol:	LDB3
Accession:	NM_001368065
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000705402	CLINVAR
dbSNP (RS)	rs1310394018	CLINVAR
MedGen	C4721886	CLINVAR
NCBI Gene	110121486	CLINVAR
	LDB3	CLINVAR
OMIM	605906	CLINVAR
	609452	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: RGD:13814984 - Homo sapiens

Imported Disease Annotations - ClinVar