ClinVar

NM_033641.4(COL4A6):c.323C>T (p.Pro108Leu)

Gene:

COL4A6:collagen type IV alpha 6 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 108219699 (on Assembly GRCh38)
• ChrX: 107462929 (on Assembly GRCh37)

Preferred name:

NM_033641.4(COL4A6):c.323C>T (p.Pro108Leu)

HGVS:

• NC_000023.11:g.108219699G>A
• NG_012059.2:g.224776C>T
• NM_001287758.2:c.323C>T
• NM_001287759.2:c.323C>T
• NM_001287760.2:c.323C>T
• NM_001847.4:c.326C>T
• NM_033641.4:c.323C>TMANE SELECT
• NP_001274687.1:p.Pro108Leu
• NP_001274688.1:p.Pro108Leu
• NP_001274689.1:p.Pro108Leu
• NP_001838.2:p.Pro109Leu
• NP_378667.1:p.Pro108Leu
• LRG_233t1:c.323C>T
• LRG_233:g.224776C>T
• LRG_233p1:p.Pro108Leu
• NC_000023.10:g.107462929G>A
• NM_001847.3:c.326C>T
• NM_033641.2:c.323C>T

This HGVS expression did not pass validation

Protein change:

P108L

Links:

dbSNP: rs139802816

NCBI 1000 Genomes Browser:

rs139802816

Molecular consequence:

• NM_001287758.2:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287759.2:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287760.2:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001847.4:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033641.4:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]