NM_001184.4(ATR):c.7786G>A (p.Glu2596Lys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002409837.2
Allele description [Variation Report for NM_001184.4(ATR):c.7786G>A (p.Glu2596Lys)]
NM_001184.4(ATR):c.7786G>A (p.Glu2596Lys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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Homo sapiens fibrillin 2 (FBN2), RefSeqGene on chromosome 5
Homo sapiens fibrillin 2 (FBN2), RefSeqGene on chromosome 5gi|2296125321|ref|NG_008750.2|Nucleotide
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Profile neighbors for GEO Profiles (Select 44325170) (161)
GEO Profiles
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TSA: Parischnogaster nigricans s4555_L_11384_0_a_34_2_l_2238 transcribed RNA seq...
TSA: Parischnogaster nigricans s4555_L_11384_0_a_34_2_l_2238 transcribed RNA sequencegi|1163520471|gb|GBMW01024485.1||gn :GBMW01|s4555_L_11384_0_a_34_2_l_2238Nucleotide
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TSA: Parischnogaster nigricans s456_L_614_1_a_27_9_l_1615 transcribed RNA sequen...
TSA: Parischnogaster nigricans s456_L_614_1_a_27_9_l_1615 transcribed RNA sequencegi|1163520456|gb|GBMW01024500.1||gn :GBMW01|s456_L_614_1_a_27_9_l_1615Nucleotide
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TSA: Parischnogaster nigricans s4570_L_11452_0_a_21_2_l_1528 transcribed RNA seq...
TSA: Parischnogaster nigricans s4570_L_11452_0_a_21_2_l_1528 transcribed RNA sequencegi|1163520455|gb|GBMW01024501.1||gn :GBMW01|s4570_L_11452_0_a_21_2_l_1528Nucleotide
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Last Updated: May 1, 2024