ClinVar

NM_001077415.3(CRELD1):c.258-6G>A

Gene:

CRELD1:cysteine rich with EGF like domains 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 9937556 (on Assembly GRCh38)
• Chr3: 9979240 (on Assembly GRCh37)

Preferred name:

NM_001077415.3(CRELD1):c.258-6G>A

HGVS:

• NC_000003.12:g.9937556G>A
• NG_017069.1:g.8716G>A
• NG_017069.2:g.8724G>A
• NM_001031717.4:c.258-6G>A
• NM_001077415.3:c.258-6G>AMANE SELECT
• NM_001374316.1:c.258-6G>A
• NM_001374317.1:c.258-6G>A
• NM_001374318.1:c.258-6G>A
• NM_001374319.1:c.258-6G>A
• NM_001374320.1:c.258-6G>A
• NM_001410713.1:c.258-6G>A
• NM_015513.4:c.258-6G>A
• NM_015513.6:c.258-6G>A
• NC_000003.11:g.9979240G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001031717.4:c.258-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077415.3:c.258-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374316.1:c.258-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374317.1:c.258-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374318.1:c.258-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374319.1:c.258-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374320.1:c.258-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410713.1:c.258-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_015513.6:c.258-6G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1