ClinVar

NM_003805.5(CRADD):c.299-75C>T

Gene:

CRADD:CASP2 and RIPK1 domain containing adaptor with death domain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q22

Genomic location:

• Chr12: 93849895 (on Assembly GRCh38)
• Chr12: 94243671 (on Assembly GRCh37)

Preferred name:

NM_003805.5(CRADD):c.299-75C>T

HGVS:

• NC_000012.12:g.93849895C>T
• NG_032159.2:g.177521C>T
• NM_001320099.2:c.299-75C>T
• NM_001320100.2:c.299-44155C>T
• NM_003805.5:c.299-75C>TMANE SELECT
• NC_000012.11:g.94243671C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs75399775

NCBI 1000 Genomes Browser:

rs75399775

Molecular consequence:

• NM_001320099.2:c.299-75C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320100.2:c.299-44155C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003805.5:c.299-75C>T - intron variant - [Sequence Ontology: SO:0001627]