LOC130056554 (ATAC-STARR-seq lymphoblastoid silent region 6136) - Rat Genome Database

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Gene: LOC130056554 (ATAC-STARR-seq lymphoblastoid silent region 6136) Homo sapiens
Analyze
Symbol: LOC130056554
Name: ATAC-STARR-seq lymphoblastoid silent region 6136
RGD ID: 329842949
Description: This genomic sequence represents an accessible chromatin region that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814102,930,018 - 102,930,277 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3714103,396,355 - 103,396,614 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01497,166,263 - 97,166,522 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:35858748  


Genomics

Variants

.
Variants in LOC130056554
68 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_030943.4(AMN):c.1006+11_1008del deletion Imerslund-Grasbeck syndrome type 2 [RCV001095385] Chr14:102930095..102930164 [GRCh38]
Chr14:103396432..103396501 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs) indel Imerslund-Grasbeck syndrome type 2 [RCV001095384] Chr14:102930199..102930200 [GRCh38]
Chr14:103396536..103396537 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.1036A>T (p.Met346Leu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001212238] Chr14:102930194 [GRCh38]
Chr14:103396531 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1006G>A (p.Gly336Ser) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001914331]|Imerslund-Grasbeck syndrome type 2 [RCV002507577] Chr14:102930086 [GRCh38]
Chr14:103396423 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.974_977dup (p.Ala327fs) duplication Imerslund-Grasbeck syndrome [RCV000050174] Chr14:102930052..102930053 [GRCh38]
Chr14:103396389..103396390 [GRCh37]
Chr14:14q32.32		 likely pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
NM_030943.4(AMN):c.1006+16_1006+30del deletion Imerslund-Grasbeck syndrome [RCV000050154] Chr14:102930096..102930110 [GRCh38]
Chr14:103396433..103396447 [GRCh37]
Chr14:14q32.32		 likely pathogenic
NM_030943.4(AMN):c.1006+34_1007-31del deletion Imerslund-Grasbeck syndrome [RCV000050155] Chr14:102930108..102930122 [GRCh38]
Chr14:103396445..103396459 [GRCh37]
Chr14:14q32.32		 pathogenic|likely pathogenic
NM_030943.4(AMN):c.1014_1021del (p.Leu339fs) deletion Imerslund-Grasbeck syndrome [RCV000050157] Chr14:102930172..102930179 [GRCh38]
Chr14:103396509..103396516 [GRCh37]
Chr14:14q32.32		 likely pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
NM_030943.4(AMN):c.1017C>A (p.Leu339=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV002076612] Chr14:102930175 [GRCh38]
Chr14:103396512 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+36_1007-29del deletion Imerslund-Grasbeck syndrome [RCV000050156] Chr14:102930122..102930136 [GRCh38]
Chr14:103396459..103396473 [GRCh37]
Chr14:14q32.32		 likely pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1 copy number loss See cases [RCV000051579] Chr14:102210395..104449321 [GRCh38]
Chr14:102676732..104926965 [GRCh37]
Chr14:101746485..103998010 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 copy number loss See cases [RCV000051580] Chr14:102584963..104898605 [GRCh38]
Chr14:103051300..105364942 [GRCh37]
Chr14:102121053..104435987 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
NM_030943.4(AMN):c.1056C>A (p.His352Gln) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001900574]|Imerslund-Grasbeck syndrome type 2 [RCV002482595]|Inborn genetic diseases [RCV004631777] Chr14:102930214 [GRCh38]
Chr14:103396551 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.968G>C (p.Arg323Pro) single nucleotide variant Inborn genetic diseases [RCV002783721] Chr14:102930048 [GRCh38]
Chr14:103396385 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1007-3C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV001892383] Chr14:102930162 [GRCh38]
Chr14:103396499 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
NM_030943.4(AMN):c.1099G>A (p.Ala367Thr) single nucleotide variant Inborn genetic diseases [RCV002743913] Chr14:102930257 [GRCh38]
Chr14:103396594 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup) duplication Imerslund-Grasbeck syndrome [RCV001896732]|Imerslund-Grasbeck syndrome type 2 [RCV003136279] Chr14:102930264..102930265 [GRCh38]
Chr14:103396601..103396602 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1086G>A (p.Ala362=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001869020]|not provided [RCV000755808] Chr14:102930244 [GRCh38]
Chr14:103396581 [GRCh37]
Chr14:14q32.32		 likely benign|uncertain significance
NM_030943.4(AMN):c.948del (p.Glu317fs) deletion Imerslund-Grasbeck syndrome [RCV001881125] Chr14:102930026 [GRCh38]
Chr14:103396363 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 copy number loss See cases [RCV000143154] Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.968G>T (p.Arg323Leu) single nucleotide variant Inborn genetic diseases [RCV002940291] Chr14:102930048 [GRCh38]
Chr14:103396385 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.998C>G (p.Ala333Gly) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003019994] Chr14:102930078 [GRCh38]
Chr14:103396415 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
NM_030943.4(AMN):c.1019G>A (p.Gly340Asp) single nucleotide variant Inborn genetic diseases [RCV002945429] Chr14:102930177 [GRCh38]
Chr14:103396514 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1007-4G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002944264] Chr14:102930161 [GRCh38]
Chr14:103396498 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.939_940delinsAT (p.Asn314Tyr) indel Imerslund-Grasbeck syndrome [RCV003040521] Chr14:102930019..102930020 [GRCh38]
Chr14:103396356..103396357 [GRCh37]
Chr14:14q32.32		 uncertain significance
NC_000014.9:g.102573453_103575949del deletion Mitochondrial complex 4 deficiency, nuclear type 17 [RCV003123350] Chr14:102573453..103575949 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001062274] Chr14:102930222 [GRCh38]
Chr14:103396559 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.967C>T (p.Arg323Trp) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003084244] Chr14:102930047 [GRCh38]
Chr14:103396384 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 copy number loss Neurodevelopmental disorder [RCV003327606] Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.1006+6C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003038420] Chr14:102930092 [GRCh38]
Chr14:103396429 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.1006+12_1006+35dup duplication Imerslund-Grasbeck syndrome [RCV003078659] Chr14:102930090..102930091 [GRCh38]
Chr14:103396427..103396428 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.989C>A (p.Ala330Glu) single nucleotide variant Imerslund-Grasbeck syndrome [RCV000806675]|Imerslund-Grasbeck syndrome type 2 [RCV002478870] Chr14:102930069 [GRCh38]
Chr14:103396406 [GRCh37]
Chr14:14q32.32		 likely benign|uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del) deletion Imerslund-Grasbeck syndrome type 2 [RCV002493300]|not provided [RCV000722856] Chr14:102930230..102930253 [GRCh38]
Chr14:103396567..103396590 [GRCh37]
Chr14:14q32.32		 uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
NM_030943.4(AMN):c.1006+8C>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002603330] Chr14:102930094 [GRCh38]
Chr14:103396431 [GRCh37]
Chr14:14q32.32		 likely benign
NC_000014.9:g.(?_102870182)_(102930700_?)del deletion Imerslund-Grasbeck syndrome [RCV000638880] Chr14:102870182..102930700 [GRCh38]
Chr14:103336519..103397037 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.1007-15G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV002588410] Chr14:102930150 [GRCh38]
Chr14:103396487 [GRCh37]
Chr14:14q32.32		 likely benign
NC_000014.8:g.(?_103336519)_(103397037_?)dup duplication Herpes simplex encephalitis, susceptibility to, 3 [RCV000650557] Chr14:102870182..102930700 [GRCh38]
Chr14:103336519..103397037 [GRCh37]
Chr14:14q32.32		 uncertain significance
NM_030943.4(AMN):c.969G>A (p.Arg323=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV001493873]|Imerslund-Grasbeck syndrome type 2 [RCV002501691] Chr14:102930049 [GRCh38]
Chr14:103396386 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.968_975del (p.Arg323fs) deletion Imerslund-Grasbeck syndrome [RCV003505795] Chr14:102930047..102930054 [GRCh38]
Chr14:103396384..103396391 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.1007-7G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505526] Chr14:102930158 [GRCh38]
Chr14:103396495 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1104C>G (p.Ala368=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003874958] Chr14:102930262 [GRCh38]
Chr14:103396599 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1089C>T (p.Gly363=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505850] Chr14:102930247 [GRCh38]
Chr14:103396584 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1014C>A (p.Ala338=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505997] Chr14:102930172 [GRCh38]
Chr14:103396509 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-31G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003505410] Chr14:102930134 [GRCh38]
Chr14:103396471 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-34del deletion Imerslund-Grasbeck syndrome [RCV003505409] Chr14:102930130 [GRCh38]
Chr14:103396467 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.990G>A (p.Ala330=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506165] Chr14:102930070 [GRCh38]
Chr14:103396407 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-38_1007-34dup duplication Imerslund-Grasbeck syndrome [RCV003875887] Chr14:102930122..102930123 [GRCh38]
Chr14:103396459..103396460 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+36_1007-34dup duplication Imerslund-Grasbeck syndrome [RCV003506362] Chr14:102930117..102930118 [GRCh38]
Chr14:103396454..103396455 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.954A>G (p.Thr318=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506499] Chr14:102930034 [GRCh38]
Chr14:103396371 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-32C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506464] Chr14:102930133 [GRCh38]
Chr14:103396470 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-13C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003877329] Chr14:102930152 [GRCh38]
Chr14:103396489 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-9C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506740] Chr14:102930156 [GRCh38]
Chr14:103396493 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1098G>A (p.Ala366=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003506364] Chr14:102930256 [GRCh38]
Chr14:103396593 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+33G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612549] Chr14:102930119 [GRCh38]
Chr14:103396456 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1092C>T (p.Gly364=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611371] Chr14:102930250 [GRCh38]
Chr14:103396587 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1039C>A (p.Arg347=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612592] Chr14:102930197 [GRCh38]
Chr14:103396534 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-14C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611446] Chr14:102930151 [GRCh38]
Chr14:103396488 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+28G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612951] Chr14:102930114 [GRCh38]
Chr14:103396451 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+12C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611940] Chr14:102930098 [GRCh38]
Chr14:103396435 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+23_1006+36del deletion Imerslund-Grasbeck syndrome [RCV003613100] Chr14:102930109..102930122 [GRCh38]
Chr14:103396446..103396459 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.957C>A (p.Gly319=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613175] Chr14:102930037 [GRCh38]
Chr14:103396374 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1114dup (p.Ala372fs) duplication Imerslund-Grasbeck syndrome [RCV003613156] Chr14:102930270..102930271 [GRCh38]
Chr14:103396607..103396608 [GRCh37]
Chr14:14q32.32		 pathogenic
NM_030943.4(AMN):c.1008C>A (p.Gly336=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613249] Chr14:102930166 [GRCh38]
Chr14:103396503 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-29G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612171] Chr14:102930136 [GRCh38]
Chr14:103396473 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-11C>G single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613438] Chr14:102930154 [GRCh38]
Chr14:103396491 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-39C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613256] Chr14:102930126 [GRCh38]
Chr14:103396463 [GRCh37]
Chr14:14q32.32		 benign
NM_030943.4(AMN):c.967C>A (p.Arg323=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612823] Chr14:102930047 [GRCh38]
Chr14:103396384 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.987G>A (p.Leu329=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612860] Chr14:102930067 [GRCh38]
Chr14:103396404 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-33G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611129] Chr14:102930132 [GRCh38]
Chr14:103396469 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1104C>T (p.Ala368=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612994] Chr14:102930262 [GRCh38]
Chr14:103396599 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+33G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611229] Chr14:102930119 [GRCh38]
Chr14:103396456 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1108C>T (p.Leu370=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611908] Chr14:102930266 [GRCh38]
Chr14:103396603 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.954A>C (p.Thr318=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611954] Chr14:102930034 [GRCh38]
Chr14:103396371 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+27C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611708] Chr14:102930113 [GRCh38]
Chr14:103396450 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-16G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612831] Chr14:102930149 [GRCh38]
Chr14:103396486 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-31_1007-30insCC insertion Imerslund-Grasbeck syndrome [RCV003612169] Chr14:102930134..102930135 [GRCh38]
Chr14:103396471..103396472 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-30G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612170] Chr14:102930135 [GRCh38]
Chr14:103396472 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-11C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003831931] Chr14:102930154 [GRCh38]
Chr14:103396491 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.945G>T (p.Gly315=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612511] Chr14:102930025 [GRCh38]
Chr14:103396362 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1002G>A (p.Glu334=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612426] Chr14:102930082 [GRCh38]
Chr14:103396419 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+9G>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612041] Chr14:102930095 [GRCh38]
Chr14:103396432 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1020C>T (p.Gly340=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003611358] Chr14:102930178 [GRCh38]
Chr14:103396515 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+14C>T single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612574] Chr14:102930100 [GRCh38]
Chr14:103396437 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+18_1006+27del deletion Imerslund-Grasbeck syndrome [RCV003611995] Chr14:102930096..102930105 [GRCh38]
Chr14:103396433..103396442 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1077T>A (p.Ala359=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613218] Chr14:102930235 [GRCh38]
Chr14:103396572 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+9G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003613408] Chr14:102930095 [GRCh38]
Chr14:103396432 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1068C>T (p.Ser356=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003612811] Chr14:102930226 [GRCh38]
Chr14:103396563 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.972G>A (p.Leu324=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003836502] Chr14:102930052 [GRCh38]
Chr14:103396389 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1029G>A (p.Glu343=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003867427] Chr14:102930187 [GRCh38]
Chr14:103396524 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1007-30G>C single nucleotide variant Imerslund-Grasbeck syndrome [RCV003842861] Chr14:102930135 [GRCh38]
Chr14:103396472 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1006+13G>A single nucleotide variant Imerslund-Grasbeck syndrome [RCV003853239] Chr14:102930099 [GRCh38]
Chr14:103396436 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1011G>A (p.Glu337=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003870447] Chr14:102930169 [GRCh38]
Chr14:103396506 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1117C>T (p.Leu373=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003848186] Chr14:102930275 [GRCh38]
Chr14:103396612 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.975C>T (p.Ala325=) single nucleotide variant AMN-related disorder [RCV003929370]|Imerslund-Grasbeck syndrome [RCV003853930] Chr14:102930055 [GRCh38]
Chr14:103396392 [GRCh37]
Chr14:14q32.32		 likely benign
NM_030943.4(AMN):c.1065C>T (p.Gly355=) single nucleotide variant Imerslund-Grasbeck syndrome [RCV003860199] Chr14:102930223 [GRCh38]
Chr14:103396560 [GRCh37]
Chr14:14q32.32		 likely benign

Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130056554 COSMIC
GTEx LOC130056554 GTEx
Human Proteome Map LOC130056554 Human Proteome Map
NCBI Gene LOC130056554 ENTREZGENE