ClinVar

NM_000092.5(COL4A4):c.2766G>A (p.Lys922=)

Gene:

COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.3

Genomic location:

• Chr2: 227054688 (on Assembly GRCh38)
• Chr2: 227919404 (on Assembly GRCh37)

Preferred name:

NM_000092.5(COL4A4):c.2766G>A (p.Lys922=)

HGVS:

• NC_000002.12:g.227054688C>T
• NG_011592.1:g.114872G>A
• NM_000092.5:c.2766G>AMANE SELECT
• NP_000083.3:p.Lys922=
• NP_000083.3:p.Lys922=
• LRG_231t1:c.2766G>A
• LRG_231:g.114872G>A
• LRG_231p1:p.Lys922=
• NC_000002.11:g.227919404C>T
• NM_000092.4:c.2766G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000092.5:c.2766G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3