ClinVar

NM_033547.4(INTS4):c.2228+851C>T

Genes:

AAMDC:adipogenesis associated Mth938 domain containing [Gene - OMIM - HGNC]
INTS4:integrator complex subunit 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q14.1

Genomic location:

• Chr11: 77900570 (on Assembly GRCh38)
• Chr11: 77611616 (on Assembly GRCh37)

Preferred name:

NM_033547.4(INTS4):c.2228+851C>T

HGVS:

• NC_000011.10:g.77900570G>A
• NM_001316957.3:c.329-1G>A
• NM_001316958.3:c.384-1G>A
• NM_001392034.1:c.384-1G>A
• NM_001392068.1:c.229-1G>A
• NM_033547.4:c.2228+851C>TMANE SELECT
• NC_000011.9:g.77611616G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_033547.4:c.2228+851C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001316957.3:c.329-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001316958.3:c.384-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001392034.1:c.384-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001392068.1:c.229-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

1