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NM_003052.4(SLC34A1):c.460_480dup21 (p.Val160_Gln161insIleLeuValThrValLeuVal)

Variation ID: Help
12933
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 25, 2010
Number of submission(s):
1
Condition(s):
Fanconi renotubular syndrome 2[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_003052.4(SLC34A1):c.460_480dup21 (p.Val160_Gln161insIleLeuValThrValLeuVal)

Allele ID:
27972
Variant type:
Duplication
Cytogenetic location:
5q35
Genomic location:
  • Chr5: 177386494 - 177386514 (on Assembly GRCh38)
  • Chr5: 176813495 - 176813515 (on Assembly GRCh37)
HGVS:
  • NG_016223.1:g.7064_7084dup21
  • NM_003052.4:c.460_480dup21
  • NP_003043.3:p.Val160_Gln161insIleLeuValThrValLeuVal
  • NC_000005.10:g.177386494_177386514dup21 (GRCh38)
  • NC_000005.9:g.176813495_176813515dup21 (GRCh37)
Note:
NCBI staff reviewed the sequence information reported in PubMed 20335586 Fig. 2A to determine the location of this allele on the current reference sequence.
Links:
NCBI 1000 Genomes Browser:
rs876657375
Molecular consequence:
NM_003052.4:c.460_480dup21: inframe_variant [Sequence Ontology SO:0001650]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Mar 25, 2010)
no assertion criteria providedliterature onlygermlineOMIMSCV000034043.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017