ClinVar

NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg)

Gene:

COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

• Chr13: 110169729 (on Assembly GRCh38)
• Chr13: 110822076 (on Assembly GRCh37)

Preferred name:

NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg)

HGVS:

• NC_000013.11:g.110169729G>C
• NG_011544.2:g.142421C>G
• NM_001845.6:c.3776C>GMANE SELECT
• NP_001836.3:p.Pro1259Arg
• LRG_1116t1:c.3776C>G
• LRG_1116:g.142421C>G
• LRG_1116p1:p.Pro1259Arg
• NC_000013.10:g.110822076G>C
• NM_001845.4:c.3776C>G
• NM_001845.5:c.3776C>G

This HGVS expression did not pass validation

Protein change:

P1259R

Links:

dbSNP: rs146329532

NCBI 1000 Genomes Browser:

rs146329532

Molecular consequence:

• NM_001845.6:c.3776C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1