LAMA4-AS1 (LAMA4 antisense RNA 1) - Rat Genome Database

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Gene: LAMA4-AS1 (LAMA4 antisense RNA 1) Homo sapiens
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Symbol: LAMA4-AS1
Name: LAMA4 antisense RNA 1
RGD ID: 14700860
HGNC Page HGNC:40333
Description: ASSOCIATED WITH Cardiomyopathy; cardiomyopathy; dilated cardiomyopathy
Type: ncrna
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386112,236,596 - 112,306,683 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376112,557,797 - 112,627,885 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map6q21NCBI
HuRef6110,132,448 - 110,202,774 (+)NCBIHuRef
CHM1_16112,819,948 - 112,890,189 (+)NCBICHM1_1
T2T-CHM13v2.06113,419,987 - 113,490,132 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)
References

Genomics

Variants

.
Variants in LAMA4-AS1
76 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001105206.3(LAMA4):c.188C>T (p.Ala63Val) single nucleotide variant Cardiovascular phenotype [RCV004639537]|Dilated cardiomyopathy 1JJ [RCV001362930]|Primary dilated cardiomyopathy [RCV001293181] Chr6:112253963 [GRCh38]
Chr6:112575165 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.74C>T (p.Ala25Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001312978] Chr6:112254077 [GRCh38]
Chr6:112575279 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.63C>G (p.Cys21Trp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001368030] Chr6:112254088 [GRCh38]
Chr6:112575290 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.75G>C (p.Ala25=) single nucleotide variant Cardiovascular phenotype [RCV003296612] Chr6:112254076 [GRCh38]
Chr6:112575278 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.82G>A (p.Asp28Asn) single nucleotide variant Cardiovascular phenotype [RCV003296626]|Dilated cardiomyopathy 1JJ [RCV003581914]|not provided [RCV003434743] Chr6:112254069 [GRCh38]
Chr6:112575271 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.141G>T (p.Pro47=) single nucleotide variant Cardiovascular phenotype [RCV002393022]|Dilated cardiomyopathy 1JJ [RCV003741185]|not specified [RCV000432928] Chr6:112254010 [GRCh38]
Chr6:112575212 [GRCh37]
Chr6:6q21		 likely benign
GRCh38/hg38 6q21(chr6:112289521-113238570)x3 copy number gain See cases [RCV000143138] Chr6:112289521..113238570 [GRCh38]
Chr6:112610723..113559772 [GRCh37]
Chr6:112717416..113666465 [NCBI36]
Chr6:6q21		 likely benign|uncertain significance
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
NM_001105206.3(LAMA4):c.-147C>T single nucleotide variant not specified [RCV000613153] Chr6:112254464 [GRCh38]
Chr6:112575666 [GRCh37]
Chr6:6q21		 likely benign
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31		 pathogenic
NM_001105206.3(LAMA4):c.98C>G (p.Pro33Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000228939] Chr6:112254053 [GRCh38]
Chr6:112575255 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.163G>T (p.Val55Leu) single nucleotide variant Cardiovascular phenotype [RCV002400254]|Dilated cardiomyopathy 1JJ [RCV001044400]|LAMA4-related disorder [RCV004746209]|not provided [RCV001563255] Chr6:112253988 [GRCh38]
Chr6:112575190 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.107T>C (p.Ile36Thr) single nucleotide variant Cardiovascular phenotype [RCV002418563]|Dilated cardiomyopathy 1JJ [RCV001071381] Chr6:112254044 [GRCh38]
Chr6:112575246 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.167C>T (p.Ala56Val) single nucleotide variant Cardiomyopathy [RCV003150325]|Cardiovascular phenotype [RCV002397305]|Dilated cardiomyopathy 1JJ [RCV000651435]|not provided [RCV001577946] Chr6:112253984 [GRCh38]
Chr6:112575186 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.122C>T (p.Ala41Val) single nucleotide variant Cardiovascular phenotype [RCV000618239]|Dilated cardiomyopathy 1JJ [RCV001478565]|not specified [RCV000603016] Chr6:112254029 [GRCh38]
Chr6:112575231 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.72C>T (p.Ala24=) single nucleotide variant Cardiovascular phenotype [RCV000621425]|Dilated cardiomyopathy 1JJ [RCV001437331] Chr6:112254079 [GRCh38]
Chr6:112575281 [GRCh37]
Chr6:6q21		 likely benign
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31		 pathogenic
NM_001105206.3(LAMA4):c.66C>T (p.Ser22=) single nucleotide variant not specified [RCV000423816] Chr6:112254085 [GRCh38]
Chr6:112575287 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.150G>A (p.Thr50=) single nucleotide variant Cardiovascular phenotype [RCV002393187]|Dilated cardiomyopathy 1JJ [RCV000458213] Chr6:112254001 [GRCh38]
Chr6:112575203 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.36T>C (p.Pro12=) single nucleotide variant Cardiovascular phenotype [RCV003372721]|Dilated cardiomyopathy 1JJ [RCV001446516] Chr6:112254115 [GRCh38]
Chr6:112575317 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.-37G>A single nucleotide variant not specified [RCV000426982] Chr6:112254187 [GRCh38]
Chr6:112575389 [GRCh37]
Chr6:6q21		 likely benign
GRCh38/hg38 6q21(chr6:112010915-112244218)x1 copy number loss See cases [RCV000141793] Chr6:112010915..112244218 [GRCh38]
Chr6:112332118..112565420 [GRCh37]
Chr6:112438811..112672113 [NCBI36]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.90C>T (p.Asn30=) single nucleotide variant not specified [RCV000611097] Chr6:112254061 [GRCh38]
Chr6:112575263 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val) single nucleotide variant Cardiovascular phenotype [RCV002408666]|not provided [RCV003332126]|not specified [RCV000150909] Chr6:112254045 [GRCh38]
Chr6:112575247 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 copy number loss See cases [RCV000142287] Chr6:103279465..113934239 [GRCh38]
Chr6:103727340..114255403 [GRCh37]
Chr6:103834033..114362096 [NCBI36]
Chr6:6q16.3-21		 pathogenic
GRCh38/hg38 6q21(chr6:111948842-112906602)x3 copy number gain See cases [RCV000134931] Chr6:111948842..112906602 [GRCh38]
Chr6:112270045..113227804 [GRCh37]
Chr6:112376738..113334497 [NCBI36]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.82GAC[1] (p.Asp29del) microsatellite Cardiovascular phenotype [RCV000619977]|Dilated cardiomyopathy 1JJ [RCV000818056] Chr6:112254064..112254066 [GRCh38]
Chr6:112575266..112575268 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
NM_001105206.3(LAMA4):c.85G>A (p.Asp29Asn) single nucleotide variant Cardiovascular phenotype [RCV002446725]|Dilated cardiomyopathy 1JJ [RCV002059871]|not provided [RCV001721355]|not specified [RCV003330675] Chr6:112254066 [GRCh38]
Chr6:112575268 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu) single nucleotide variant Cardiovascular phenotype [RCV002390321]|not specified [RCV000150908] Chr6:112254011 [GRCh38]
Chr6:112575213 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.157C>A (p.Pro53Thr) single nucleotide variant not provided [RCV000480059] Chr6:112253994 [GRCh38]
Chr6:112575196 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.141G>A (p.Pro47=) single nucleotide variant Cardiovascular phenotype [RCV002390516]|Dilated cardiomyopathy 1JJ [RCV000869333]|LAMA4-related disorder [RCV003947624]|not provided [RCV004706657]|not specified [RCV000196264] Chr6:112254010 [GRCh38]
Chr6:112575212 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.195+131C>G single nucleotide variant not provided [RCV001546468]|not specified [RCV000036927] Chr6:112253825 [GRCh38]
Chr6:112575027 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.59C>T (p.Ala20Val) single nucleotide variant Cardiovascular phenotype [RCV002356662]|Dilated cardiomyopathy 1JJ [RCV000460405]|not provided [RCV000786334] Chr6:112254092 [GRCh38]
Chr6:112575294 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.105C>G (p.Asp35Glu) single nucleotide variant Cardiovascular phenotype [RCV004024648]|Dilated cardiomyopathy 1JJ [RCV003338673]|Hypertrophic cardiomyopathy 1 [RCV000584772] Chr6:112254046 [GRCh38]
Chr6:112575248 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.40T>C (p.Trp14Arg) single nucleotide variant Cardiovascular phenotype [RCV003372772]|Dilated cardiomyopathy 1JJ [RCV000600889]|not provided [RCV001727778] Chr6:112254111 [GRCh38]
Chr6:112575313 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 copy number loss See cases [RCV000138006] Chr6:107370141..115827482 [GRCh38]
Chr6:107691345..116148646 [GRCh37]
Chr6:107798038..116255339 [NCBI36]
Chr6:6q21-22.1		 pathogenic
NM_001105206.3(LAMA4):c.195+71_195+73del deletion Dilated cardiomyopathy 1JJ [RCV003227689]|not provided [RCV000171987] Chr6:112253883..112253885 [GRCh38]
Chr6:112575085..112575087 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.195+144T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000611290]|LAMA4-related disorder [RCV003917472]|not specified [RCV000150907] Chr6:112253812 [GRCh38]
Chr6:112575014 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.85G>C (p.Asp29His) single nucleotide variant Cardiovascular phenotype [RCV000622019]|Dilated cardiomyopathy 1JJ [RCV001522148]|not provided [RCV000547478]|not specified [RCV000198603] Chr6:112254066 [GRCh38]
Chr6:112575268 [GRCh37]
Chr6:6q21		 benign|likely benign
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31		 pathogenic
NM_001105206.3(LAMA4):c.195+4_195+5del deletion not specified [RCV000037341] Chr6:112253951..112253952 [GRCh38]
Chr6:112575153..112575154 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.153C>A (p.Ser51Arg) single nucleotide variant Cardiovascular phenotype [RCV003372717]|Dilated cardiomyopathy 1JJ [RCV000469423]|not specified [RCV003401458] Chr6:112253998 [GRCh38]
Chr6:112575200 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.133C>T (p.Gln45Ter) single nucleotide variant Dilated cardiomyopathy 1S [RCV000490907] Chr6:112254018 [GRCh38]
Chr6:112575220 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.123G>A (p.Ala41=) single nucleotide variant Cardiovascular phenotype [RCV003169160]|Dilated cardiomyopathy 1JJ [RCV001426003] Chr6:112254028 [GRCh38]
Chr6:112575230 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.195+5A>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001219218] Chr6:112253951 [GRCh38]
Chr6:112575153 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.123G>T (p.Ala41=) single nucleotide variant Cardiovascular phenotype [RCV002382204]|not provided [RCV000977703] Chr6:112254028 [GRCh38]
Chr6:112575230 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.169C>T (p.Leu57=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000932906] Chr6:112253982 [GRCh38]
Chr6:112575184 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.191C>T (p.Ala64Val) single nucleotide variant Cardiovascular phenotype [RCV004639463]|Dilated cardiomyopathy 1JJ [RCV001071502] Chr6:112253960 [GRCh38]
Chr6:112575162 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.133del (p.Gln45fs) deletion Cardiovascular phenotype [RCV002384455]|Dilated cardiomyopathy 1JJ [RCV001339472]|not provided [RCV004762103] Chr6:112254018 [GRCh38]
Chr6:112575220 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.92C>T (p.Ala31Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001294978] Chr6:112254059 [GRCh38]
Chr6:112575261 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.57_59dup (p.Ala20dup) duplication Cardiovascular phenotype [RCV003167124]|Dilated cardiomyopathy 1JJ [RCV001910002] Chr6:112254091..112254092 [GRCh38]
Chr6:112575293..112575294 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.188C>A (p.Ala63Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001989553] Chr6:112253963 [GRCh38]
Chr6:112575165 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.51G>A (p.Trp17Ter) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002050618] Chr6:112254100 [GRCh38]
Chr6:112575302 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.195+3A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001972988] Chr6:112253953 [GRCh38]
Chr6:112575155 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.14C>T (p.Ser5Leu) single nucleotide variant Cardiovascular phenotype [RCV004043501]|Dilated cardiomyopathy 1JJ [RCV001933311] Chr6:112254137 [GRCh38]
Chr6:112575339 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.195+16C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002072868] Chr6:112253940 [GRCh38]
Chr6:112575142 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.56C>T (p.Ala19Val) single nucleotide variant not provided [RCV003234495] Chr6:112254095 [GRCh38]
Chr6:112575297 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.194A>T (p.Glu65Val) single nucleotide variant Cardiovascular phenotype [RCV002421492] Chr6:112253957 [GRCh38]
Chr6:112575159 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.107T>A (p.Ile36Asn) single nucleotide variant Cardiovascular phenotype [RCV002417496] Chr6:112254044 [GRCh38]
Chr6:112575246 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.20G>C (p.Trp7Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002303956] Chr6:112254131 [GRCh38]
Chr6:112575333 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.64T>C (p.Ser22Pro) single nucleotide variant Cardiovascular phenotype [RCV002364140] Chr6:112254087 [GRCh38]
Chr6:112575289 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys) single nucleotide variant Cardiovascular phenotype [RCV002446302]|Dilated cardiomyopathy 1JJ [RCV003098792]|not provided [RCV002463209] Chr6:112254129 [GRCh38]
Chr6:112575331 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.27G>A (p.Ser9=) single nucleotide variant Cardiovascular phenotype [RCV002441555]|Dilated cardiomyopathy 1JJ [RCV003102235] Chr6:112254124 [GRCh38]
Chr6:112575326 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.24C>G (p.Arg8=) single nucleotide variant Cardiovascular phenotype [RCV002455602] Chr6:112254127 [GRCh38]
Chr6:112575329 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.67C>T (p.Arg23Cys) single nucleotide variant Cardiovascular phenotype [RCV002369473]|Dilated cardiomyopathy 1JJ [RCV003776312] Chr6:112254084 [GRCh38]
Chr6:112575286 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.15A>G (p.Ser5=) single nucleotide variant Cardiovascular phenotype [RCV002398640] Chr6:112254136 [GRCh38]
Chr6:112575338 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.103G>C (p.Asp35His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002300529] Chr6:112254048 [GRCh38]
Chr6:112575250 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.103G>A (p.Asp35Asn) single nucleotide variant Cardiovascular phenotype [RCV002389628] Chr6:112254048 [GRCh38]
Chr6:112575250 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.81G>C (p.Gly27=) single nucleotide variant Cardiovascular phenotype [RCV002427918]|not provided [RCV003426405] Chr6:112254070 [GRCh38]
Chr6:112575272 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.39G>T (p.Leu13=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002880608] Chr6:112254112 [GRCh38]
Chr6:112575314 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.152G>C (p.Ser51Thr) single nucleotide variant Cardiovascular phenotype [RCV003308182]|Dilated cardiomyopathy 1JJ [RCV002613603] Chr6:112253999 [GRCh38]
Chr6:112575201 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5C>T (p.Ala2Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002953231] Chr6:112254146 [GRCh38]
Chr6:112575348 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.123G>C (p.Ala41=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003078660] Chr6:112254028 [GRCh38]
Chr6:112575230 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.122C>A (p.Ala41Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002851110] Chr6:112254029 [GRCh38]
Chr6:112575231 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.195+4C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002988722] Chr6:112253952 [GRCh38]
Chr6:112575154 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.57T>C (p.Ala19=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002676882] Chr6:112254094 [GRCh38]
Chr6:112575296 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.78C>T (p.Ser26=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002605773] Chr6:112254073 [GRCh38]
Chr6:112575275 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.112G>A (p.Gly38Arg) single nucleotide variant Cardiovascular phenotype [RCV003296622] Chr6:112254039 [GRCh38]
Chr6:112575241 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.193G>A (p.Glu65Lys) single nucleotide variant not provided [RCV004781356] Chr6:112253958 [GRCh38]
Chr6:112575160 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.97C>G (p.Pro33Ala) single nucleotide variant not provided [RCV003225576] Chr6:112254054 [GRCh38]
Chr6:112575256 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.6T>A (p.Ala2=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003876211] Chr6:112254145 [GRCh38]
Chr6:112575347 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.94T>A (p.Phe32Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581485] Chr6:112254057 [GRCh38]
Chr6:112575259 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.20G>T (p.Trp7Leu) single nucleotide variant Cardiovascular phenotype [RCV004366887]|Dilated cardiomyopathy 1JJ [RCV003837104] Chr6:112254131 [GRCh38]
Chr6:112575333 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.43C>T (p.Leu15Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582826] Chr6:112254108 [GRCh38]
Chr6:112575310 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.134A>G (p.Gln45Arg) single nucleotide variant Cardiovascular phenotype [RCV004513437] Chr6:112254017 [GRCh38]
Chr6:112575219 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.93T>C (p.Ala31=) single nucleotide variant Cardiovascular phenotype [RCV004513481] Chr6:112254058 [GRCh38]
Chr6:112575260 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.195+39T>A single nucleotide variant LAMA4-related disorder [RCV003894130] Chr6:112253917 [GRCh38]
Chr6:112575119 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.189G>C (p.Ala63=) single nucleotide variant Cardiovascular phenotype [RCV004513443] Chr6:112253962 [GRCh38]
Chr6:112575164 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.195+120C>G single nucleotide variant LAMA4-related disorder [RCV003956857] Chr6:112253836 [GRCh38]
Chr6:112575038 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.190G>A (p.Ala64Thr) single nucleotide variant Cardiovascular phenotype [RCV004639918] Chr6:112253961 [GRCh38]
Chr6:112575163 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.8dup (p.Leu3fs) duplication Cardiovascular phenotype [RCV004633825] Chr6:112254142..112254143 [GRCh38]
Chr6:112575344..112575345 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.188_191delinsTGGT (p.Ala63_Ala64delinsValVal) indel not provided [RCV004771170] Chr6:112253960..112253963 [GRCh38]
Chr6:112575162..112575165 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.50G>A (p.Trp17Ter) single nucleotide variant not provided [RCV004773661] Chr6:112254101 [GRCh38]
Chr6:112575303 [GRCh37]
Chr6:6q21		 uncertain significance

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407073107GWAS722083_Hbirth weight, pelvic organ prolapse QTL GWAS722083 (human)0.0000005birth weight, pelvic organ prolapseneonatal body weight (CMO:0002079)6112251159112251160Human
406907332GWAS556308_Hbipolar disorder QTL GWAS556308 (human)0.0000008bipolar disorder6112269480112269481Human
407288504GWAS937480_Hbody height QTL GWAS937480 (human)8e-20body height (VT:0001253)body height (CMO:0000106)6112282607112282608Human


Expression

RNA-SEQ Expression


Sequence


RefSeq Acc Id: NR_121193
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,236,596 - 112,306,683 (+)NCBI
T2T-CHM13v2.06113,419,987 - 113,490,132 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC LAMA4-AS1 COSMIC
GTEx LAMA4-AS1 GTEx
HGNC ID HGNC:40333 ENTREZGENE
Human Proteome Map LAMA4-AS1 Human Proteome Map
NCBI Gene LAMA4-AS1 ENTREZGENE
RNAcentral URS000075ADCE RNACentral