NM_153427.2(PITX2):c.-793C>A AND Anterior segment dysgenesis 4
- Germline classification:
- Benign (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:
- RCV001150572.13
Allele description [Variation Report for NM_153427.2(PITX2):c.-793C>A]
NM_153427.2(PITX2):c.-793C>A
Condition(s)
- Name:
- Anterior segment dysgenesis 4 (ASGD4)
- Synonyms:
- Iridogoniodysgenesis, dominant type; Iridogoniodysgenesis type 2; Iridogoniodysgenesis syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007662; MedGen: C1842031; Orphanet: 91483; OMIM: 137600
-
PREDICTED: Ictidomys tridecemlineatus hepatocyte nuclear factor 4 alpha (Hnf4a),...
PREDICTED: Ictidomys tridecemlineatus hepatocyte nuclear factor 4 alpha (Hnf4a), transcript variant X2, mRNAgi|2015663251|ref|XM_005327112.4|Nucleotide
-
Rattus norvegicus strain BN chromosome 4 CRA_213000034411934, whole genome shotg...
Rattus norvegicus strain BN chromosome 4 CRA_213000034411934, whole genome shotgun sequencegi|70577958|gb|AAHX01027893.1||gnl| AHX|CRA_213000034411934Nucleotide
-
Bifidobacterium adolescentis ATCC 15703, complete sequence
Bifidobacterium adolescentis ATCC 15703, complete sequencegi|119025018|ref|NC_008618.1|Nucleotide
-
Homo sapiens 2-oxoglutarate and iron dependent oxygenase domain containing 2 (OG...
Homo sapiens 2-oxoglutarate and iron dependent oxygenase domain containing 2 (OGFOD2), transcript variant 2, mRNAgi|756140758|ref|NM_024623.2|Nucleotide
-
Lamproscapha ensiformis voucher BivAToL-382 18S ribosomal RNA gene, partial sequ...
Lamproscapha ensiformis voucher BivAToL-382 18S ribosomal RNA gene, partial sequencegi|1104599539|gb|KX713304.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 16, 2024