ClinVar

NM_033380.3(COL4A5):c.82-212C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 108539534 (on Assembly GRCh38)
• ChrX: 107782764 (on Assembly GRCh37)

Preferred name:

NM_033380.3(COL4A5):c.82-212C>T

HGVS:

• NC_000023.11:g.108539534C>T
• NG_011977.2:g.104611C>T
• NM_000495.5:c.82-212C>T
• NM_033380.3:c.82-212C>TMANE SELECT
• LRG_232t1:c.82-212C>T
• LRG_232t2:c.82-212C>T
• LRG_232:g.104611C>T
• NC_000023.10:g.107782764C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs16985514

NCBI 1000 Genomes Browser:

rs16985514

Molecular consequence:

• NM_000495.5:c.82-212C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_033380.3:c.82-212C>T - intron variant - [Sequence Ontology: SO:0001627]