RGD:126920463 Rat Genome Database

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Variant: RGD:126920463 -  Homo sapiens

RGD ID: 126920463
RS ID: rs746662519
ClinVar ID: CV1048701
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMT2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 77,786,783
GRCh38 14 77,320,440
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013382.7:c.242A>C
LRG_844:g.5443A>C
NG_008897.1:g.5443A>C
NC_000014.9:g.77320440T>G
More... 		06/04/2020 missense variant uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2N; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2; MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMT2
Accession:XM_047431314
Location:5UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431313
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFATRFHRLDEPP
PICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAY
LTVLDLSKSLSAALLTAALLTFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGAL
GVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAVHFMVLSKSGPGDGFFSSAFQ
ARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPS
FPVEFVRHGDIIRLEHKECPLKKIWRWEQKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRI
KVLRSRIRFIHLVTGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHM
VMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPA
EVAGLSQVLLRGGGQVLLGWTLHYFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGIL
SLLLGTAYSFYLFHPLAYGMVGPLAQDPQSPMAGLRWLDSWDF*

Gene Symbol:POMT2
Accession:XM_047431315
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFATRFHRLDEPP
PICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAY
LTVLDLSKSLSAALLTAALLTFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGAL
GVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAVHFMVLSKSGPGDGFFSSAFQ
ARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPS
FPVEFVRHGDIIRLEHKECPLKKIWRWEQKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRI
KVLRSRIRFIHLVTGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHM
VMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPA
EVAGNQGTMRLRNLPQDIQLGCPRSCFEEAARSCSAGHSITSRFS*

Gene Symbol:POMT2
Accession:XM_047431312
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFATRFHRLDEPP
PICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAY
LTVLDLSKSLSAALLTAALLTFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGAL
GVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAVHFMVLSKSGPGDGFFSSAFQ
ARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPS
FPVEFVRHGDIIRLEHKECPLKKIWRWEQKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRI
KVLRSRIRFIHLVTGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHM
VMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPA
EVAGQVLWALPPLTWRQQGTCTPGEGRLPADGPSFAFTTPHLPLSFAFERKPRNHEIKKLAPGHTARLSQVLLRGGGQVL
LGWTLHYFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLFHPLA
YGMVGPLAQDPQSPMAGLRWLDSWDF*

Gene Symbol:POMT2
Accession:XM_011536677
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFATRFHRLDEPP
PICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAY
LTVLDLSKSLSAALLTAALLTFDLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTN
SDPLDPSFPVEFVRHGDIIRLEHKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSR
IRFIHLVTGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHMVMIRGN
SGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPAEVAGQV
LWALPPLTWRQQGTCTPGEGRLPADGPSFAFTTPHLPLSFAFERKPRNHEIKKLAPGHTARLSQVLLRGGGQVLLGWTLH
YFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLFHPLAYGMVGP
LAQDPQSPMAGLRWLDSWDF*

Gene Symbol:POMT2
Accession:XM_011536675
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFATRFHRLDEPP
PICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAY
LTVLDLSKSLSAALLTAALLTFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGAL
GVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAVHFMVLSKSGPGDGFFSSAFQ
ARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPS
FPVEFVRHGDIIRLEHKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLV
TGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHMVMIRGNSGLKPKD
NEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPAEVAGQVLWALPPL
TWRQQGTCTPGEGRLPADGPSFAFTTPHLPLSFAFERKPRNHEIKKLAPGHTARLSQVLLRGGGQVLLGWTLHYFPFFLM
GRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLFHPLAYGMVGPLAQDPQS
PMAGLRWLDSWDF*

Gene Symbol:POMT2
Accession:NM_013382
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFATRFHRLDEPP
PICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAY
LTVLDLSKSLSAALLTAALLTFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGAL
GVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAVHFMVLSKSGPGDGFFSSAFQ
ARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPS
FPVEFVRHGDIIRLEHKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLV
TGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHMVMIRGNSGLKPKD
NEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPAEVAGLSQVLLRGG
GQVLLGWTLHYFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLF
HPLAYGMVGPLAQDPQSPMAGLRWLDSWDF*

Gene Symbol:POMT2
Accession:XM_047431318
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFATRFHRLDEPP
PICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAY
LTVLDLSKSLSAALLTAALLTFDLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTN
SDPLDPSFPVEFVRHGDIIRLEHKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSR
IRFIHLVTGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHMVMIRGN
SGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPAEVAGLS
QVLLRGGGQVLLGWTLHYFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGT
AYSFYLFHPLAYGMVGPLAQDPQSPMAGLRWLDSWDF*

Gene Symbol:POMT2
Accession:XM_047431316
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFATRFHRLDEPP
PICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAY
LTVLDLSKSLSAALLTAALLTFDLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTN
SDPLDPSFPVEFVRHGDIIRLEHKECPLKKIWRWEQKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVN
RKFGNRIKVLRSRIRFIHLVTGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPE
ILLESHMVMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQ
RGARLPAEVAGQVLWALPPLTWRQQGTCTPGEGRLPADGPSFAFTTPHLPLSFAFERKPRNHEIKKLAPGHTARLSQVLL
RGGGQVLLGWTLHYFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSF
YLFHPLAYGMVGPLAQDPQSPMAGLRWLDSWDF*

Gene Symbol:POMT2
Accession:XM_047431317
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431320
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431319
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001362891 CLINVAR
dbSNP (RS) rs746662519 CLINVAR
MedGen C3150411 CLINVAR
NCBI Gene POMT2 CLINVAR
OMIM 607439 CLINVAR
  613150 CLINVAR
  613156 CLINVAR
  613158 CLINVAR