RGD:14693610 Rat Genome Database

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Variant: RGD:14693610 -  Homo sapiens

RGD ID: 14693610
RS ID: rs772562587
ClinVar ID: CV620627
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAN2B1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 12,774,184
GRCh38 19 12,663,370
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000528.4:c.856G>A
NG_008318.1:g.8408G>A
NC_000019.10:g.12663370C>T
NC_000019.9:g.12774184C>T
More... 		02/21/2023 missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance Alpha mannosidase B deficiency; Alpha-Mannosidosis; Lysosomal alpha-D-mannosidase deficiency; Mannosidosis, alpha B lysosomal; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAN2B1
Accession:NM_000528
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKT
VDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDE
AATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWR
ASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPKYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDF
QYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKR
YERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNAL
ARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAH
PPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQT
FFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIP
VGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQG
GSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYN
LGAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQ
LREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG*

Gene Symbol:MAN2B1
Accession:XM_005259913
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKT
VDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDE
AATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWR
ASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPKYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDF
QYENANMWFKNLDKLIRLVNAQQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALK
RYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNA
LARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQA
HPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQ
TFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPI
PVGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQ
GGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAY
NLGAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVAN
QLREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG*

Gene Symbol:MAN2B1
Accession:NM_001173498
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKT
VDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDE
AATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWR
ASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPKYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDF
QYENANMWFKNLDKLIRLVNAQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRY
ERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNALA
RLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHP
PELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTF
FWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIPV
GDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQGG
SSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNL
GAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQL
REAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG*

Gene Symbol:MAN2B1
Accession:XM_047438841
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24353136   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000779250 CLINVAR
  RCV002510974 CLINVAR
dbSNP (RS) rs772562587 CLINVAR
MedGen C0024748 CLINVAR
  C3661900 CLINVAR
NCBI Gene MAN2B1 CLINVAR
OMIM 248500 CLINVAR
  609458 CLINVAR
SNOMED CT 124466001 CLINVAR