LOC117125594 (H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:13001481-13002118 and GRCh37_chr19:13002119-13002756) - Rat Genome Database

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Gene: LOC117125594 (H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:13001481-13002118 and GRCh37_chr19:13002119-13002756) Homo sapiens
Analyze
Symbol: LOC117125594
Name: H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:13001481-13002118 and GRCh37_chr19:13002119-13002756
RGD ID: 38670194
Description: This genomic region was predicted to have enhancer function based on an activity-by-contact (ABC) model that predicts enhancer-gene connections, where the putative enhancer strength is measured by DNase I hypersensitivity and H3K27 acetylation, and the contact frequency by Hi-C. Two subregions marked by the H3K27ac and H3K4me1 histone modifications were validated as active enhancers by ChIP-STARR-seq in primed human embryonic stem cells. Another subregion was validated as a positively-acting cis-regulatory element for the KLF1 (Kruppel like factor 1) gene based on CRISPR/Cas9-mediated perturbation (CRISPRi-FlowFISH method) in K562 erythroleukemia cells. An accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in HepG2 liver carcinoma cells. [provided by RefSeq, Jun 2023]
Type: biological-region
RefSeq Status: REVIEWED
Previously known as: CRISPRi-FlowFISH-validated KLF1 regulatory element
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381912,890,667 - 12,891,942 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371913,001,505 - 13,002,192 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19pNCBI
T2T-CHM13v2.01913,015,119 - 13,016,394 (+)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
References
Additional References at PubMed
PMID:30033119   PMID:31784727   PMID:32094911  


Genomics

Variants

.
Variants in LOC117125594
105 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000159.4(GCDH):c.122C>T (p.Ala41Val) single nucleotide variant not provided [RCV003312433] Chr19:12891517 [GRCh38]
Chr19:13002331 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.197_198del (p.Leu66fs) deletion Glutaric aciduria, type 1 [RCV002310081] Chr19:12891899..12891900 [GRCh38]
Chr19:13002713..13002714 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.128-82T>G single nucleotide variant Glutaric aciduria, type 1 [RCV001527184]|not provided [RCV001597292] Chr19:12891749 [GRCh38]
Chr19:13002563 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.127+64G>C single nucleotide variant Glutaric aciduria, type 1 [RCV001527183]|not provided [RCV001598690] Chr19:12891586 [GRCh38]
Chr19:13002400 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.-4G>C single nucleotide variant Glutaric aciduria, type 1 [RCV001827535]|not provided [RCV001588214] Chr19:12891301 [GRCh38]
Chr19:13002115 [GRCh37]
Chr19:19p13.13
uncertain significance
GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 copy number gain See cases [RCV000052911] Chr19:12850595..13290954 [GRCh38]
Chr19:12961409..13401768 [GRCh37]
Chr19:12822409..13262768 [NCBI36]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.38G>A (p.Arg13His) single nucleotide variant Glutaric aciduria, type 1 [RCV000910751]|not provided [RCV003229000] Chr19:12891342 [GRCh38]
Chr19:13002156 [GRCh37]
Chr19:19p13.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.-35+3A>G single nucleotide variant not specified [RCV000435483] Chr19:12891205 [GRCh38]
Chr19:13002019 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.-47G>A single nucleotide variant Glutaric aciduria, type 1 [RCV001197962] Chr19:12891190 [GRCh38]
Chr19:13002004 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.-35+9G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000267770] Chr19:12891211 [GRCh38]
Chr19:13002025 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.-35+17_-35+19delinsGG indel not specified [RCV000611096] Chr19:12891219..12891221 [GRCh38]
Chr19:13002033..13002035 [GRCh37]
Chr19:19p13.13
likely benign
GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 copy number gain See cases [RCV000054144] Chr19:12813597..13119698 [GRCh38]
Chr19:12924411..13230512 [GRCh37]
Chr19:12785411..13091512 [NCBI36]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.-67dup duplication Elevated circulating glutaric acid concentration [RCV000298201] Chr19:12891169..12891170 [GRCh38]
Chr19:13001983..13001984 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.-49G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000353123] Chr19:12891188 [GRCh38]
Chr19:13002002 [GRCh37]
Chr19:19p13.13
uncertain significance
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
NM_000159.4(GCDH):c.-35G>A single nucleotide variant Glutaric aciduria, type 1 [RCV001124037]|not specified [RCV000443628] Chr19:12891202 [GRCh38]
Chr19:13002016 [GRCh37]
Chr19:19p13.13
likely benign|uncertain significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
NM_000159.4(GCDH):c.3G>A (p.Met1Ile) single nucleotide variant Glutaric aciduria, type 1 [RCV000666241] Chr19:12891307 [GRCh38]
Chr19:13002121 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.1A>C (p.Met1Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV000668267] Chr19:12891305 [GRCh38]
Chr19:13002119 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.-50C>T single nucleotide variant Glutaric aciduria, type 1 [RCV001124036] Chr19:12891187 [GRCh38]
Chr19:13002001 [GRCh37]
Chr19:19p13.13
uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.-35+19C>T single nucleotide variant not provided [RCV000839909] Chr19:12891221 [GRCh38]
Chr19:13002035 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.54C>T (p.His18=) single nucleotide variant Glutaric aciduria, type 1 [RCV000872580]|Inborn genetic diseases [RCV003169181] Chr19:12891358 [GRCh38]
Chr19:13002172 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.-69T>C single nucleotide variant Glutaric aciduria, type 1 [RCV001122970] Chr19:12891168 [GRCh38]
Chr19:13001982 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.-34-11C>A single nucleotide variant Glutaric aciduria, type 1 [RCV001124038]|not provided [RCV002473201] Chr19:12891260 [GRCh38]
Chr19:13002074 [GRCh37]
Chr19:19p13.13
uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
NM_000159.4(GCDH):c.73TCG[1] (p.Ser26del) microsatellite Glutaric aciduria, type 1 [RCV000666490] Chr19:12891377..12891379 [GRCh38]
Chr19:13002191..13002193 [GRCh37]
Chr19:19p13.13
uncertain significance
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
NM_000159.4(GCDH):c.42A>T (p.Gly14=) single nucleotide variant Glutaric aciduria, type 1 [RCV001414623] Chr19:12891346 [GRCh38]
Chr19:13002160 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.29T>C (p.Leu10Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV001278556] Chr19:12891333 [GRCh38]
Chr19:13002147 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.51G>T (p.Leu17=) single nucleotide variant Glutaric aciduria, type 1 [RCV001427878] Chr19:12891355 [GRCh38]
Chr19:13002169 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.6C>T (p.Ala2=) single nucleotide variant Glutaric aciduria, type 1 [RCV001431297] Chr19:12891310 [GRCh38]
Chr19:13002124 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.8dup (p.Arg4fs) duplication Glutaric aciduria, type 1 [RCV001382112] Chr19:12891311..12891312 [GRCh38]
Chr19:13002125..13002126 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.15C>A (p.Gly5=) single nucleotide variant Glutaric aciduria, type 1 [RCV001464180]|not specified [RCV001797841] Chr19:12891319 [GRCh38]
Chr19:13002133 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.-35+17A>G single nucleotide variant Glutaric aciduria, type 1 [RCV001527144]|not provided [RCV001673109] Chr19:12891219 [GRCh38]
Chr19:13002033 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.48C>G (p.Gly16=) single nucleotide variant Glutaric aciduria, type 1 [RCV001435228] Chr19:12891352 [GRCh38]
Chr19:13002166 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.45C>T (p.Pro15=) single nucleotide variant Glutaric aciduria, type 1 [RCV001450339] Chr19:12891349 [GRCh38]
Chr19:13002163 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.51G>A (p.Leu17=) single nucleotide variant Glutaric aciduria, type 1 [RCV001419178] Chr19:12891355 [GRCh38]
Chr19:13002169 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.57C>A (p.Val19=) single nucleotide variant Glutaric aciduria, type 1 [RCV002097513] Chr19:12891361 [GRCh38]
Chr19:13002175 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.49C>T (p.Leu17=) single nucleotide variant Glutaric aciduria, type 1 [RCV002178075] Chr19:12891353 [GRCh38]
Chr19:13002167 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.148T>G (p.Trp50Gly) single nucleotide variant Glutaric aciduria, type 1 [RCV001832767]|not provided [RCV001563484] Chr19:12891851 [GRCh38]
Chr19:13002665 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.127+48T>C single nucleotide variant Glutaric aciduria, type 1 [RCV001527145]|not provided [RCV001651110]|not specified [RCV000252203] Chr19:12891570 [GRCh38]
Chr19:13002384 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.91+46G>T single nucleotide variant not provided [RCV001556685] Chr19:12891441 [GRCh38]
Chr19:13002255 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.222C>A (p.Tyr74Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001956566] Chr19:12891925 [GRCh38]
Chr19:13002739 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.218C>T (p.Thr73Ile) single nucleotide variant Glutaric aciduria, type 1 [RCV001124039] Chr19:12891921 [GRCh38]
Chr19:13002735 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.232A>G (p.Arg78Gly) single nucleotide variant Glutaric aciduria, type 1 [RCV002605574] Chr19:12891935 [GRCh38]
Chr19:13002749 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.102G>A (p.Gly34=) single nucleotide variant Glutaric aciduria, type 1 [RCV000939363]|Inborn genetic diseases [RCV002382147] Chr19:12891497 [GRCh38]
Chr19:13002311 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.215G>A (p.Arg72His) single nucleotide variant Glutaric aciduria, type 1 [RCV002005181] Chr19:12891918 [GRCh38]
Chr19:13002732 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.109_110del (p.Gln37fs) microsatellite Glutaric aciduria, type 1 [RCV001231330] Chr19:12891501..12891502 [GRCh38]
Chr19:13002315..13002316 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.110A>G (p.Gln37Arg) single nucleotide variant not provided [RCV001763944] Chr19:12891505 [GRCh38]
Chr19:13002319 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.78G>C (p.Ser26=) single nucleotide variant Glutaric aciduria, type 1 [RCV002166547] Chr19:12891382 [GRCh38]
Chr19:13002196 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.79del (p.Ala27fs) deletion Glutaric aciduria, type 1 [RCV000409365] Chr19:12891382 [GRCh38]
Chr19:13002196 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.219del (p.Tyr74fs) deletion Glutaric aciduria, type 1 [RCV000409366] Chr19:12891921 [GRCh38]
Chr19:13002735 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.193A>C (p.Ile65Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV001873063] Chr19:12891896 [GRCh38]
Chr19:13002710 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.80_81del (p.Ala27fs) deletion Glutaric aciduria, type 1 [RCV000410524] Chr19:12891383..12891384 [GRCh38]
Chr19:13002197..13002198 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.124A>T (p.Lys42Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001264318] Chr19:12891519 [GRCh38]
Chr19:13002333 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001264319] Chr19:12891852 [GRCh38]
Chr19:13002666 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.150G>C (p.Trp50Cys) single nucleotide variant Glutaric aciduria, type 1 [RCV001066989] Chr19:12891853 [GRCh38]
Chr19:13002667 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.150G>A (p.Trp50Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001806292] Chr19:12891853 [GRCh38]
Chr19:13002667 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.209C>A (p.Thr70Asn) single nucleotide variant Glutaric aciduria, type 1 [RCV000941197]|not provided [RCV003233885] Chr19:12891912 [GRCh38]
Chr19:13002726 [GRCh37]
Chr19:19p13.13
likely benign|uncertain significance
NM_000159.4(GCDH):c.224G>C (p.Cys75Ser) single nucleotide variant Inborn genetic diseases [RCV002428451] Chr19:12891927 [GRCh38]
Chr19:13002741 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.127+1G>A single nucleotide variant Glutaric aciduria, type 1 [RCV001212983]|not provided [RCV002245875] Chr19:12891523 [GRCh38]
Chr19:13002337 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.204G>A (p.Arg68=) single nucleotide variant Glutaric aciduria, type 1 [RCV002598316] Chr19:12891907 [GRCh38]
Chr19:13002721 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.128-79G>T single nucleotide variant not provided [RCV001647962] Chr19:12891752 [GRCh38]
Chr19:13002566 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV001245375] Chr19:12891860 [GRCh38]
Chr19:13002674 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|uncertain significance
NM_000159.4(GCDH):c.198del (p.Ile67fs) deletion Glutaric aciduria, type 1 [RCV000409879]|not provided [RCV001572317] Chr19:12891901 [GRCh38]
Chr19:13002715 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.207C>T (p.Asp69=) single nucleotide variant Glutaric aciduria, type 1 [RCV002212306] Chr19:12891910 [GRCh38]
Chr19:13002724 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.123T>C (p.Ala41=) single nucleotide variant Glutaric aciduria, type 1 [RCV002155328] Chr19:12891518 [GRCh38]
Chr19:13002332 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp) single nucleotide variant Glutaric aciduria, type 1 [RCV000665639] Chr19:12891895 [GRCh38]
Chr19:13002709 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.92-8G>C single nucleotide variant Glutaric aciduria, type 1 [RCV002194244] Chr19:12891479 [GRCh38]
Chr19:13002293 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.108A>G (p.Thr36=) single nucleotide variant Glutaric aciduria, type 1 [RCV002810409] Chr19:12891503 [GRCh38]
Chr19:13002317 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.123T>A (p.Ala41=) single nucleotide variant Glutaric aciduria, type 1 [RCV002620348] Chr19:12891518 [GRCh38]
Chr19:13002332 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.127+8C>T single nucleotide variant Glutaric aciduria, type 1 [RCV000922031]|not specified [RCV000610268] Chr19:12891530 [GRCh38]
Chr19:13002344 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.87G>A (p.Gln29=) single nucleotide variant Glutaric aciduria, type 1 [RCV000224706] Chr19:12891391 [GRCh38]
Chr19:13002205 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.229G>T (p.Glu77Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001264320] Chr19:12891932 [GRCh38]
Chr19:13002746 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.133C>A (p.Arg45Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV001042221] Chr19:12891836 [GRCh38]
Chr19:13002650 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.127+16C>G single nucleotide variant Glutaric aciduria, type 1 [RCV002173042] Chr19:12891538 [GRCh38]
Chr19:13002352 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.231G>A (p.Glu77=) single nucleotide variant Glutaric aciduria, type 1 [RCV002150251] Chr19:12891934 [GRCh38]
Chr19:13002748 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.91+5G>T single nucleotide variant BLOOD GROUP--LUTHERAN INHIBITOR [RCV002482815]|Glutaric aciduria, type 1 [RCV000002168] Chr19:12891400 [GRCh38]
Chr19:13002214 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.120G>A (p.Leu40=) single nucleotide variant Glutaric aciduria, type 1 [RCV002137263] Chr19:12891515 [GRCh38]
Chr19:13002329 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.114C>A (p.Ser38Arg) single nucleotide variant Inborn genetic diseases [RCV003289492]|not provided [RCV002273363] Chr19:12891509 [GRCh38]
Chr19:13002323 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.116A>C (p.Gln39Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV000810467] Chr19:12891511 [GRCh38]
Chr19:13002325 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.92-10G>A single nucleotide variant Glutaric aciduria, type 1 [RCV002140365] Chr19:12891477 [GRCh38]
Chr19:13002291 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.84G>T (p.Ala28=) single nucleotide variant Glutaric aciduria, type 1 [RCV002820862] Chr19:12891388 [GRCh38]
Chr19:13002202 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000410967]|not provided [RCV000760423] Chr19:12891929 [GRCh38]
Chr19:13002743 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000412281] Chr19:12891875 [GRCh38]
Chr19:13002689 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.92-14T>C single nucleotide variant Glutaric aciduria, type 1 [RCV002106631] Chr19:12891473 [GRCh38]
Chr19:13002287 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.92-7C>T single nucleotide variant Glutaric aciduria, type 1 [RCV001466399]|not provided [RCV001726562] Chr19:12891480 [GRCh38]
Chr19:13002294 [GRCh37]
Chr19:19p13.13
likely benign|uncertain significance
NM_000159.4(GCDH):c.233G>A (p.Arg78Lys) single nucleotide variant Inborn genetic diseases [RCV003259286] Chr19:12891936 [GRCh38]
Chr19:13002750 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.196C>T (p.Leu66Phe) single nucleotide variant Glutaric aciduria, type 1 [RCV001908375] Chr19:12891899 [GRCh38]
Chr19:13002713 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.138C>T (p.Pro46=) single nucleotide variant Glutaric aciduria, type 1 [RCV002183301] Chr19:12891841 [GRCh38]
Chr19:13002655 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.227A>C (p.Gln76Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV000668423] Chr19:12891930 [GRCh38]
Chr19:13002744 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.49C>G (p.Leu17Val) single nucleotide variant Glutaric aciduria, type 1 [RCV002948207] Chr19:12891353 [GRCh38]
Chr19:13002167 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.81G>T (p.Ala27=) single nucleotide variant Glutaric aciduria, type 1 [RCV002221020] Chr19:12891385 [GRCh38]
Chr19:13002199 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.7C>T (p.Leu3=) single nucleotide variant Glutaric aciduria, type 1 [RCV002885383] Chr19:12891311 [GRCh38]
Chr19:13002125 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.74C>T (p.Ser25Leu) single nucleotide variant Inborn genetic diseases [RCV002744751] Chr19:12891378 [GRCh38]
Chr19:13002192 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.63C>T (p.Arg21=) single nucleotide variant Glutaric aciduria, type 1 [RCV002602559] Chr19:12891367 [GRCh38]
Chr19:13002181 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.91+5G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000802276] Chr19:12891400 [GRCh38]
Chr19:13002214 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.189T>C (p.Asp63=) single nucleotide variant Glutaric aciduria, type 1 [RCV002847466] Chr19:12891892 [GRCh38]
Chr19:13002706 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.158C>T (p.Pro53Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV002872645] Chr19:12891861 [GRCh38]
Chr19:13002675 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.91G>T (p.Glu31Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001382602] Chr19:12891395 [GRCh38]
Chr19:13002209 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.127+18C>T single nucleotide variant Glutaric aciduria, type 1 [RCV002835030] Chr19:12891540 [GRCh38]
Chr19:13002354 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV001376891] Chr19:12891906 [GRCh38]
Chr19:13002720 [GRCh37]
Chr19:19p13.13
likely pathogenic|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.204G>C (p.Arg68Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV002847202] Chr19:12891907 [GRCh38]
Chr19:13002721 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.91+8T>A single nucleotide variant Glutaric aciduria, type 1 [RCV003032550] Chr19:12891403 [GRCh38]
Chr19:13002217 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.117A>G (p.Gln39=) single nucleotide variant Glutaric aciduria, type 1 [RCV001419514] Chr19:12891512 [GRCh38]
Chr19:13002326 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.128-5C>T single nucleotide variant Glutaric aciduria, type 1 [RCV002909935] Chr19:12891826 [GRCh38]
Chr19:13002640 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.84G>A (p.Ala28=) single nucleotide variant Glutaric aciduria, type 1 [RCV001445022] Chr19:12891388 [GRCh38]
Chr19:13002202 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.78G>A (p.Ser26=) single nucleotide variant Glutaric aciduria, type 1 [RCV003063047] Chr19:12891382 [GRCh38]
Chr19:13002196 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.129C>T (p.Ser43=) single nucleotide variant Glutaric aciduria, type 1 [RCV001486757] Chr19:12891832 [GRCh38]
Chr19:13002646 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.127+1G>T single nucleotide variant Glutaric aciduria, type 1 [RCV003021570] Chr19:12891523 [GRCh38]
Chr19:13002337 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.75G>T (p.Ser25=) single nucleotide variant Glutaric aciduria, type 1 [RCV001458824] Chr19:12891379 [GRCh38]
Chr19:13002193 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.196_198del (p.Leu66del) deletion Glutaric aciduria, type 1 [RCV003145819] Chr19:12891897..12891899 [GRCh38]
Chr19:13002711..13002713 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.127+9C>T single nucleotide variant Glutaric aciduria, type 1 [RCV001432321] Chr19:12891531 [GRCh38]
Chr19:13002345 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.114C>T (p.Ser38=) single nucleotide variant Glutaric aciduria, type 1 [RCV001459845] Chr19:12891509 [GRCh38]
Chr19:13002323 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.80C>T (p.Ala27Val) single nucleotide variant Glutaric aciduria, type 1 [RCV003110370] Chr19:12891384 [GRCh38]
Chr19:13002198 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg) single nucleotide variant Glutaric aciduria, type 1 [RCV003324309] Chr19:12891851 [GRCh38]
Chr19:13002665 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV003324906] Chr19:12891305 [GRCh38]
Chr19:13002119 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.175C>T (p.Gln59Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV003461685] Chr19:12891878 [GRCh38]
Chr19:13002692 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.41_42delinsT (p.Gly14fs) indel Glutaric aciduria, type 1 [RCV003468266] Chr19:12891345..12891346 [GRCh38]
Chr19:13002159..13002160 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.7_8del (p.Leu3fs) deletion Glutaric aciduria, type 1 [RCV003468263] Chr19:12891311..12891312 [GRCh38]
Chr19:13002125..13002126 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.222C>T (p.Tyr74=) single nucleotide variant Glutaric aciduria, type 1 [RCV003874869] Chr19:12891925 [GRCh38]
Chr19:13002739 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.161T>C (p.Leu54Pro) single nucleotide variant GCDH-related condition [RCV003404609] Chr19:12891864 [GRCh38]
Chr19:13002678 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.92-18C>T single nucleotide variant Glutaric aciduria, type 1 [RCV003876548] Chr19:12891469 [GRCh38]
Chr19:13002283 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.127+20C>T single nucleotide variant Glutaric aciduria, type 1 [RCV003602883] Chr19:12891542 [GRCh38]
Chr19:13002356 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.169G>A (p.Glu57Lys) single nucleotide variant not specified [RCV003490904] Chr19:12891872 [GRCh38]
Chr19:13002686 [GRCh37]
Chr19:19p13.13
pathogenic|uncertain significance
NM_000159.4(GCDH):c.120_123del (p.Ala41fs) deletion Glutaric aciduria, type 1 [RCV003602606] Chr19:12891513..12891516 [GRCh38]
Chr19:13002327..13002330 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.91+15G>T single nucleotide variant Glutaric aciduria, type 1 [RCV003604560] Chr19:12891410 [GRCh38]
Chr19:13002224 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.198C>T (p.Leu66=) single nucleotide variant Glutaric aciduria, type 1 [RCV003604748] Chr19:12891901 [GRCh38]
Chr19:13002715 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.138C>G (p.Pro46=) single nucleotide variant Glutaric aciduria, type 1 [RCV003604818] Chr19:12891841 [GRCh38]
Chr19:13002655 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.168G>T (p.Leu56=) single nucleotide variant Glutaric aciduria, type 1 [RCV003603297] Chr19:12891871 [GRCh38]
Chr19:13002685 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.178C>T (p.Leu60=) single nucleotide variant Glutaric aciduria, type 1 [RCV003040089] Chr19:12891881 [GRCh38]
Chr19:13002695 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.216C>T (p.Arg72=) single nucleotide variant Glutaric aciduria, type 1 [RCV001469860] Chr19:12891919 [GRCh38]
Chr19:13002733 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.227A>G (p.Gln76Arg) single nucleotide variant Glutaric aciduria, type 1 [RCV003105038] Chr19:12891930 [GRCh38]
Chr19:13002744 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.92-4G>A single nucleotide variant Glutaric aciduria, type 1 [RCV001437048] Chr19:12891483 [GRCh38]
Chr19:13002297 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.171G>A (p.Glu57=) single nucleotide variant Glutaric aciduria, type 1 [RCV003029689] Chr19:12891874 [GRCh38]
Chr19:13002688 [GRCh37]
Chr19:19p13.13
likely benign

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC117125594 COSMIC
GTEx LOC117125594 GTEx
Human Proteome Map LOC117125594 Human Proteome Map
NCBI Gene LOC117125594 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-11-22 LOC117125594  H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:13001481-13002118 and GRCh37_chr19:13002119-13002756  LOC117125594  CRISPRi-FlowFISH-validated KLF1 regulatory element  Symbol and/or name change 5135510 APPROVED