NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys) AND Syndromic X-linked intellectual disability 94
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 16, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001814627.2
Allele description [Variation Report for NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys)]
NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys)
Condition(s)
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Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts
Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblastsMedGen
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Acinetobacter baumannii strain 65 contig_111, whole genome shotgun sequence
Acinetobacter baumannii strain 65 contig_111, whole genome shotgun sequencegi|1047338892|ref|NZ_MACA01000101.1 |WGS:NZ_MACA01|contig_111Nucleotide
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Acinetobacter baumannii strain 65 contig_80, whole genome shotgun sequence
Acinetobacter baumannii strain 65 contig_80, whole genome shotgun sequencegi|1047338857|ref|NZ_MACA01000073.1 |WGS:NZ_MACA01|contig_80Nucleotide
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Acinetobacter baumannii strain 65 contig_91, whole genome shotgun sequence
Acinetobacter baumannii strain 65 contig_91, whole genome shotgun sequencegi|1047338868|ref|NZ_MACA01000082.1 |WGS:NZ_MACA01|contig_91Nucleotide
-
Klebsiella pneumoniae strain K2701 NODE_87_length_600_cov_300.905, whole genome ...
Klebsiella pneumoniae strain K2701 NODE_87_length_600_cov_300.905, whole genome shotgun sequencegi|1235092124|gb|NPGR01000085.1||gn :NPGR01|NODE_87_length_600_cov_300.905Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024