NM_013382.7(POMT2):c.1863_1864del (p.Ala623fs)Rat Genome Database

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Variant : CV441682 (NM_013382.7(POMT2):c.1863_1864del (p.Ala623fs)) Homo sapiens

Symbol: CV441682
Name: NM_013382.7(POMT2):c.1863_1864del (p.Ala623fs)
RGD ID: 13470328
Condition: not provided [RCV000517285]
Clinical Significance: likely pathogenic
Last Evaluated: 06/08/2017
Review Status: criteria provided, single submitter
Related Genes: POMT2  
Variant Type: microsatellite (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_013382.5:c.1863_1864del
p.Ala623Thrfs*156
NP_037514.2:p.Ala623fs
NM_013382.7:c.1863_1864del
NG_008897.1:g.46028AG[2]
NC_000014.9:g.77279850CT[2]
NC_000014.8:g.77746193CT[2]
LRG_844:g.46028AG[2]
Position
Human AssemblyChrPosition (strand)Source
GRCh381477,279,850 - 77,279,851CLINVAR
GRCh371477,746,193 - 77,746,194CLINVAR
Cytogenetic Map1414q24.3CLINVAR



Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000517285 CLINVAR
dbSNP (RS) rs1555351849 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene POMT2 CLINVAR
OMIM 607439 CLINVAR