ClinVar

NM_032415.7(CARD11):c.3059C>T (p.Thr1020Met)

Gene:

CARD11:caspase recruitment domain family member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.2

Genomic location:

• Chr7: 2912257 (on Assembly GRCh38)
• Chr7: 2951891 (on Assembly GRCh37)

Preferred name:

NM_032415.7(CARD11):c.3059C>T (p.Thr1020Met)

HGVS:

• NC_000007.14:g.2912257G>A
• NG_027759.1:g.136619C>T
• NM_001324281.3:c.3059C>T
• NM_032415.7:c.3059C>TMANE SELECT
• NP_001311210.1:p.Thr1020Met
• NP_115791.3:p.Thr1020Met
• LRG_729t1:c.3059C>T
• LRG_729t2:c.3059C>T
• LRG_729:g.136619C>T
• LRG_729p1:p.Thr1020Met
• LRG_729p2:p.Thr1020Met
• NC_000007.13:g.2951891G>A
• NM_032415.5:c.3059C>T

This HGVS expression did not pass validation

Protein change:

T1020M

Links:

dbSNP: rs116583746

NCBI 1000 Genomes Browser:

rs116583746

Molecular consequence:

• NM_001324281.3:c.3059C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032415.7:c.3059C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1