NM_002296.4(LBR):c.655A>G (p.Met219Val) AND Greenberg dysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001100542.2
Allele description
NM_002296.4(LBR):c.655A>G (p.Met219Val)
Condition(s)
- Name:
- Greenberg dysplasia (GRBGD)
- Synonyms:
- CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE; HEM SKELETAL DYSPLASIA; MOTH-EATEN SKELETAL DYSPLASIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008974; MedGen: C2931048; Orphanet: 1426; OMIM: 215140
-
N-acetylmannosamine-6-phosphate 2-epimerase [Clostridioides difficile]
N-acetylmannosamine-6-phosphate 2-epimerase [Clostridioides difficile]gi|489525691|ref|WP_003430452.1|Protein
-
asparagine--tRNA ligase [Melioribacter roseus]
asparagine--tRNA ligase [Melioribacter roseus]gi|504667718|ref|WP_014854820.1|Protein
-
PREDICTED: Brassica oleracea var. oleracea protein ODORANT1 (LOC106333307), tran...
PREDICTED: Brassica oleracea var. oleracea protein ODORANT1 (LOC106333307), transcript variant X2, mRNAgi|922446801|ref|XM_013771771.1|Nucleotide
-
RC1-UT0063-091000-014-g01 UT0063 Homo sapiens cDNA, mRNA sequence
RC1-UT0063-091000-014-g01 UT0063 Homo sapiens cDNA, mRNA sequencegi|12299423|gnl|dbEST|7480314|gb|BF 5.1|Nucleotide
-
Mouse DNA sequence from clone RP23-25M5 on chromosome 2, complete sequence
Mouse DNA sequence from clone RP23-25M5 on chromosome 2, complete sequencegi|32131056|emb|AL929417.11|Nucleotide
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Last Updated: Apr 23, 2022