ClinVar

NM_001854.4(COL11A1):c.3979-3T>C

Gene:

COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p21.1

Genomic location:

• Chr1: 102913693 (on Assembly GRCh38)
• Chr1: 103379249 (on Assembly GRCh37)

Preferred name:

NM_001854.4(COL11A1):c.3979-3T>C

HGVS:

• NC_000001.11:g.102913693A>G
• NG_008033.2:g.199804T>C
• NM_001190709.2:c.3862-3T>C
• NM_001854.4:c.3979-3T>CMANE SELECT
• NM_080629.3:c.4015-3T>C
• NM_080630.4:c.3631-3T>C
• NC_000001.10:g.103379249A>G
• NM_001854.3:c.3979-3T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs138464908

NCBI 1000 Genomes Browser:

rs138464908

Molecular consequence:

• NM_001190709.2:c.3862-3T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001854.4:c.3979-3T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_080629.3:c.4015-3T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_080630.4:c.3631-3T>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1