CARMAL (coronary artery disease region linked MFGE8 regulatory lncRNA) - Rat Genome Database

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Gene: CARMAL (coronary artery disease region linked MFGE8 regulatory lncRNA) Homo sapiens
Analyze
Symbol: CARMAL
Name: coronary artery disease region linked MFGE8 regulatory lncRNA
RGD ID: 32716429
HGNC Page HGNC:55102
Description: ASSOCIATED WITH amenorrhea; Primary amenorrhea
Type: ncrna
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381589,040,998 - 89,084,229 (+)NCBIGRCh38GRCh38hg38GRCh38
Cytogenetic Map15q26.1NCBI
CHM1_11589,425,254 - 89,467,087 (+)NCBICHM1_1
T2T-CHM13v2.01586,795,895 - 86,839,085 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
amenorrhea  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:21998595   PMID:23251661   PMID:32625236  


Genomics

Variants

.
Variants in CARMAL
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 copy number gain See cases [RCV000142727] Chr15:88676575..98364743 [GRCh38]
Chr15:89219806..98907972 [GRCh37]
Chr15:87020810..96725495 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
NC_000015.9:g.89595324_89652892del57569 deletion Primary amenorrhea [RCV000754464] Chr15:89052093..89109661 [GRCh38]
Chr15:89595324..89652892 [GRCh37]
Chr15:15q26.1		 likely benign
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic

Expression


Sequence


Reference Sequences
RefSeq Acc Id: NR_183880
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,040,998 - 89,079,716 (+)NCBI
T2T-CHM13v2.01586,795,895 - 86,834,576 (+)NCBI
RefSeq Acc Id: NR_183881
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,040,998 - 89,079,716 (+)NCBI
T2T-CHM13v2.01586,795,895 - 86,834,576 (+)NCBI
RefSeq Acc Id: NR_183882
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,040,998 - 89,084,229 (+)NCBI
T2T-CHM13v2.01586,795,895 - 86,839,085 (+)NCBI
RefSeq Acc Id: NR_183883
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,040,998 - 89,079,716 (+)NCBI
T2T-CHM13v2.01586,795,895 - 86,834,576 (+)NCBI

Additional Information

Database Acc Id Source(s)
COSMIC CARMAL COSMIC
GTEx CARMAL GTEx
HGNC ID HGNC:55102 ENTREZGENE
Human Proteome Map CARMAL Human Proteome Map
NCBI Gene CARMAL ENTREZGENE
RNAcentral URS00026A1C4F RNACentral
  URS00026A1EC9 RNACentral
  URS00026A207F RNACentral
  URS00026A22FF RNACentral