ClinVar

NM_001715.3(BLK):c.772+341C>G

Gene:

BLK:BLK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11555825 (on Assembly GRCh38)
• Chr8: 11413334 (on Assembly GRCh37)

Preferred name:

NM_001715.3(BLK):c.772+341C>G

HGVS:

• NC_000008.11:g.11555825C>G
• NG_023543.2:g.66814C>G
• NM_001330465.2:c.559+341C>G
• NM_001715.3:c.772+341C>GMANE SELECT
• NC_000008.10:g.11413334C>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001330465.2:c.559+341C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001715.3:c.772+341C>G - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1