WebDec 11, 2024 · The CTNNA1 p.Ile121Leu variant was not identified in the literature nor was it identified in Cosmic. ... (ID: rs371337206), ClinVar (classified as uncertain significance by Invitae), and LOVD 3.0 (variant effect not shared). The variant was identified in control databases in 11 of 268282 chromosomes at a frequency of 0.000041 (Genome ... WebSep 12, 2024 · Gene: CTNNA1:catenin alpha 1 [ Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 5q31.2 Genomic location: Chr5: 138917839 (on Assembly GRCh38) Chr5: 138253528 (on Assembly GRCh37) Preferred name: NM_001903.5 (CTNNA1):c.1487G>A (p.Arg496His) HGVS: …
Submissions for variant NM_001903.5(CTNNA1):c.2434-4G>A
WebAug 30, 2024 · CTNNA1:catenin alpha 1 [ Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 5q31.2 Genomic location: Chr5: 138827714 (on Assembly GRCh38) Chr5: 138163403 (on Assembly GRCh37) Preferred name: NM_001903.5 (CTNNA1):c.1058G>A (p.Gly353Asp) HGVS: … WebDec 4, 2024 · In the past five years, truncating germline variants in CTNNA1 ( catenin alpha-1 ), which encode a CDH1- binding partner, have been identified in five families with … twr uk how to listen
CTNNA1 - My Cancer Genome
WebTEST SELECTION OPTION 1: SELECT AN INVITAE PANEL FROM OUR TEST CATALOG Select your desired test (s) from the attached test catalog and discard any pages without a selection.REASON FOR TESTING Primary indication: ONCOLOGY CARDIOLOGY OTHER Hereditary breast and ovarian cancer (HBOC) syndrome Lynch syndrome Polyposis … WebInvitae’s result guides were developed by experts and are based on standard medical management guidelines and published data. The positive result guides below are labeled … WebList of variants in gene CTNNA1 reported as benign by Invitae. Minimum submission review status: Collection method: Minimum conflict level: Report conflict between different conditions Gene type: ... NM_001903. 5 (CTNNA1): c. 1390-11A>G twr upper gi