RGD:11638426 Rat Genome Database

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Variant: RGD:11638426 -  Homo sapiens

RGD ID: 11638426
RS ID: rs139774354
ClinVar ID: CV273167
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 134,385,382
GRCh38 9 131,509,995
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007171.3:c.698A>G
NG_008896.1:g.12094A>G
NC_000009.12:g.131509995A>G
NC_000009.11:g.134385382A>G
More... 		06/09/2018 missense variant uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; Muscular dystrophy-dystroglycanopathy, type A; none provided; Walker-Warburg congenital muscular dystrophy; Walker-Warburg syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMT1
Accession:NM_001411024
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001136113
Location:EXON

Gene Symbol:POMT1
Accession:XM_011518145
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLS
SVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLAR
ITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPP
RPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNT
SAVLKLSGAHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWR
MLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQDA
WLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHV
SNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH*

Gene Symbol:POMT1
Accession:XM_011518143
Location:EXON

Gene Symbol:POMT1
Accession:NM_001353198
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKQIFFLDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAM
GAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLV
LGVAAVHAWHLLGDQTLSSVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPH
DQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNN
WWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSD
TDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQV
DVSRNLSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLS
LWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQ
RSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH*

Gene Symbol:POMT1
Accession:NM_001353195
Location:EXON

Gene Symbol:POMT1
Accession:NM_001374690
Location:EXON

Gene Symbol:POMT1
Accession:XM_011518140
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGHMVLALGGYLG
GFDGNFLWNRIGAENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVF
TYVLVLGVAAVHAWHLLGDQTLSSVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVF
RSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPF
KDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIV
NRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELH
SPAQVDVSRNLSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAI
YALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLC
RSQLQRSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH*

Gene Symbol:POMT1
Accession:NM_001353193
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGHMVLALGGYLG
GFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLI
FFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSSVGADVQC
CMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLE
VAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDM
VQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSG
AHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDD
SEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAG
ALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLT
YGDKSLSPHELKALRWKDSWDILIRKH*

Gene Symbol:POMT1
Accession:NM_001353197
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKQIFFLDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAM
GAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLV
LGVAAVHAWHLLGDQTLSSVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPH
DQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNN
WWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSD
TDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQV
DVSRNLSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLS
LWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQ
RSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH*

Gene Symbol:POMT1
Accession:NM_001374692
Location:EXON

Gene Symbol:POMT1
Accession:XM_011518141
Location:EXON

Gene Symbol:POMT1
Accession:XM_047422640
Location:EXON

Gene Symbol:POMT1
Accession:NM_001353196
Location:EXON

Gene Symbol:POMT1
Accession:XM_047422641
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGHMVLALGGYLG
GFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLI
FFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSSVGADVQC
CMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLE
VAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDM
VQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKDGI
PM*

Gene Symbol:POMT1
Accession:NM_001136114
Location:EXON

Gene Symbol:POMT1
Accession:NM_001374693
Location:EXON

Gene Symbol:POMT1
Accession:XM_011518142
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKQIFFLDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFS
LSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSSVGADVQCCMRPACMGQMQMSQGVCVFCHLL
ARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHS
HQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSP
HSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGYH
GSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWL
HPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFL
YHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDIL
IRKH*

Gene Symbol:POMT1
Accession:NM_001374695
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLS
SVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLAR
ITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPP
RPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNT
SAVLKLSGAHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWR
MLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQDA
WLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHV
SNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH*

Gene Symbol:POMT1
Accession:NM_001374691
Location:EXON

Gene Symbol:POMT1
Accession:NM_007171
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGHMVLALGGYLG
GFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLI
FFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSSVGADVQC
CMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLE
VAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDM
VQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSG
AHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDD
SEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAG
ALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLT
YGDKSLSPHELKALRWKDSWDILIRKH*

Gene Symbol:POMT1
Accession:NM_001077365
Location:EXON

Gene Symbol:POMT1
Accession:NM_001077366
Location:EXON

Gene Symbol:POMT1
Accession:NM_001353194
Location:EXON

Gene Symbol:POMT1
Accession:NM_001353199
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAYQIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVAC
SCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSSVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLY
LLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRG
SSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNIS
MPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGA
SQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNI
VIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLL
PVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH*

Gene Symbol:POMT1
Accession:NM_001353200
Location:EXON

Gene Symbol:POMT1
Accession:NM_001374689
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKQIFFLDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAM
GAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLV
LGVAAVHAWHLLGDQTLSSVGADVQCCMRPACMGQMQMSQGVLGEKTPILNVLEAGRPGQPRLLASAGLCVLSLARPSSG
FAGHPGRPVLTVLLRPLDSSLPLWAPRPNHVQCLPGQLRGRTSSDHSGSATGGGLWVPGHSEERLWETCALLASFPPGHL
PHDVRYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQ
EVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGYHGST
VWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPR
TSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHY
LPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRK
H*

Gene Symbol:POMT1
Accession:NR_148399
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061228
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:XR_001746160
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148393
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061229
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148396
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148395
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061226
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148392
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148394
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148400
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148397
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148398
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061230
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148391
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061227
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:XM_047422642
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000303428 CLINVAR
  RCV000699828 CLINVAR
dbSNP (RS) rs139774354 CLINVAR
MedGen C1836373 CLINVAR
  C3661900 CLINVAR
NCBI Gene POMT1 CLINVAR
OMIM 607423 CLINVAR
  609308 CLINVAR
  613155 CLINVAR
SNOMED CT 111504002 CLINVAR