ClinVar

NM_033380.3(COL4A5):c.4217-30A>G

Gene:

COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 108686001 (on Assembly GRCh38)
• ChrX: 107929231 (on Assembly GRCh37)

Preferred name:

NM_033380.3(COL4A5):c.4217-30A>G

HGVS:

• NC_000023.11:g.108686001A>G
• NG_011977.2:g.251078A>G
• NM_000495.5:c.4199-30A>G
• NM_033380.3:c.4217-30A>GMANE SELECT
• LRG_232t1:c.4199-30A>G
• LRG_232t2:c.4217-30A>G
• LRG_232:g.251078A>G
• NC_000023.10:g.107929231A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs199782398

NCBI 1000 Genomes Browser:

rs199782398

Molecular consequence:

• NM_000495.5:c.4199-30A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_033380.3:c.4217-30A>G - intron variant - [Sequence Ontology: SO:0001627]