NM_001354712.2(THRB):c.1144+1G>T AND THRB-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003408379.4
Allele description [Variation Report for NM_001354712.2(THRB):c.1144+1G>T]
NM_001354712.2(THRB):c.1144+1G>T
Condition(s)
- Name:
- THRB-related disorder
- Synonyms:
- THRB-related condition
- Identifiers:
-
Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), transcript variant...
Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), transcript variant 5, mRNAgi|1890274622|ref|NM_001286671.2|Nucleotide
-
H3123C10-3 NIA Mouse 15K cDNA Clone Set Mus musculus cDNA clone H3123C10 3', mRN...
H3123C10-3 NIA Mouse 15K cDNA Clone Set Mus musculus cDNA clone H3123C10 3', mRNA sequencegi|40100893|gnl|dbEST|21041057|gb|B 99.2|Nucleotide
-
MAG: Gammaproteobacteria bacterium GWF2_41_13 gwf2_scaffold_18554, whole genome ...
MAG: Gammaproteobacteria bacterium GWF2_41_13 gwf2_scaffold_18554, whole genome shotgun sequencegi|1085111475|gb|MGXI01000019.1||gn :MGXI01|gwf2_scaffold_18554Nucleotide
-
PREDICTED: Etheostoma cragini sarcoglycan, delta (dystrophin-associated glycopro...
PREDICTED: Etheostoma cragini sarcoglycan, delta (dystrophin-associated glycoprotein) (sgcd), transcript variant X4, mRNAgi|1848725134|ref|XM_034889770.1|Nucleotide
-
Human apoptotic cysteine protease Mih1/TX isoform delta (mih1/Tx) mRNA, complete...
Human apoptotic cysteine protease Mih1/TX isoform delta (mih1/Tx) mRNA, complete cdsgi|4096351|gb|U28979.1|HSU28979Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024