RGD:151232944 Rat Genome Database

Variant: RGD:151232944 - Homo sapiens

RGD ID:

151232944

RS ID:

rs2102865393

ClinVar ID:

CV1320031

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LMNA LOC126805877

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	156,100,421
GRCh38	1	156,130,630

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
NP_733821.1:p.Glu124Lys NP_733822.1:p.Glu124Lys NP_001244303.1:p.Glu12Lys NM_001282624.2:c.127G>A More...	06/01/2023	missense variant	likely pathogenic\|uncertain significance	Cardiomyopathies; CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Cardiomyopathy, Familial Idiopathic; Dilated cardiomyopathy with conduction defect; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation; Idiopathic dilated cardiomyopathy

Disease Annotations Click to see Annotation Detail View

cardiomyopathy (IAGP)

dilated cardiomyopathy 1A (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Cardiomyopathy (IAGP)

Dilated cardiomyopathy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	LMNA
Accession:	NM_001406994
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406996
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001407003
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406999
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406997
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001406993
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001407000
Location:	5UTRS;EXON

Gene Symbol:	LMNA
Accession:	NM_001407001
Location:	5UTRS;INTRON

Gene Symbol:	LMNA
Accession:	NM_001406990
Location:	5UTRS;INTRON

Gene Symbol:	LMNA
Accession:	NM_001406995
Location:	5UTRS;INTRON

Gene Symbol:	LMNA
Accession:	NM_001407002
Location:	5UTRS;INTRON

Gene Symbol:	LMNA
Accession:	NM_001282624
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQPLLCLGNLEDARERTGTLLAQHPAWGRTRAKPGSPLNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGE LHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRL ADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLR DLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGR ASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTY RFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDL LHHHHVSGSRR*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA YEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQGPWELTKP SHPPSAGSQGGEASRPGGLTGP*

Gene Symbol:	LMNA
Accession:	NM_001406988
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	25

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDLEAWDPHLEPDAEAMVDGNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEA KKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQY KKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLA EKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKR KLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWA AGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEY NLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQ NCSIM*

Gene Symbol:	LMNA
Accession:	NM_170708
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA YEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEGSHCSSSGDPAEYNLRSRTVLCGT CGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNSEGCNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVD AENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLD NARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARM QQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQ HARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDL VWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCG QPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM*

Gene Symbol:	LMNA
Accession:	NM_001406983
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA YEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDN LVTRSYLLGNSSPRTQSPQNCSIM*

Gene Symbol:	LMNA
Accession:	NM_001406998
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNSEGCNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVD AENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLD NARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARM QQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQ HARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDL VWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHVSGSRR*

Gene Symbol:	LMNA
Accession:	NM_001282626
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA YEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQSPQNCSIM*

Gene Symbol:	LMNA
Accession:	NM_001406992
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA YEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD LLHHHHVSGSRR*

Gene Symbol:	LMNA
Accession:	NM_001257374
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNSEGCNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVD AENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLD NARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARM QQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQ HARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDL VWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCG QPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIIQEMGMRWE VEEGRRKVSLSCLP*

Gene Symbol:	LMNA
Accession:	NM_001282625
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA YEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD LLHHHHVSGSRR*

Gene Symbol:	LMNA
Accession:	NM_170707
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA YEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDN LVTRSYLLGNSSPRTQSPQNCSIM*

Gene Symbol:	LMNA
Accession:	NM_001406986
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQPLLCLGNLEDARERTGTLLAQHPAWGRTRAKPGSPLNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGE LHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRL ADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLR DLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGR ASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTY RFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDL LHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNL VTRSYLLGNSSPRTQSPQNCSIM*

Gene Symbol:	LMNA
Accession:	NM_001406989
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNSEGCNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVD AENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLD NARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARM QQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQ HARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDL VWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCG QPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM*

Gene Symbol:	LMNA
Accession:	NM_005572
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA YEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD LLHHHHVSGSRR*

Gene Symbol:	LMNA
Accession:	NM_001406991
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA YEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDN LVTRSYLLGNSSPRTQSPQNCSIM*

Gene Symbol:	LMNA
Accession:	NM_001406985
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA YEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDN LVTRSYLLGNSSPRTQSPQNCSIIQEMGMRWEVEEGRRKVSLSCLP*

Gene Symbol:	LMNA
Accession:	NM_001406984
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVVSREVSGIKAA YEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL RDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRG RASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD LLHHHHVSGSRR*

Gene Symbol:	LMNA
Accession:	NM_001406987
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	43

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQPLLCLGNLEDARERTGTLLAQHPAWGRTRAKPGSPLNTKKKGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGE LHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRL ADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLR DLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGR ASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTY RFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDL LHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNL VTRSYLLGNSSPRTQSPQNCSIM*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001799387	CLINVAR
	RCV003319227	CLINVAR
dbSNP (RS)	rs2102865393	CLINVAR
MedGen	C0878544	CLINVAR
	C1449563	CLINVAR
NCBI Gene	LMNA	CLINVAR
	LOC126805877	CLINVAR
OMIM	115200	CLINVAR
	150330	CLINVAR
SNOMED CT	85898001	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)

Variant: RGD:151232944 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:151232944 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar