ClinVar

NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)

Gene:

COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 48575531 (on Assembly GRCh38)
• Chr3: 48612964 (on Assembly GRCh37)

Preferred name:

NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)

HGVS:

• NC_000003.12:g.48575531G>A
• NG_007065.1:g.24722C>T
• NM_000094.4:c.5988C>TMANE SELECT
• NP_000085.1:p.Ile1996=
• NP_000085.1:p.Ile1996=
• LRG_286t1:c.5988C>T
• LRG_286:g.24722C>T
• LRG_286p1:p.Ile1996=
• NC_000003.11:g.48612964G>A
• NM_000094.3:c.5988C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs146901730

NCBI 1000 Genomes Browser:

rs146901730

Molecular consequence:

• NM_000094.4:c.5988C>T - synonymous variant - [Sequence Ontology: SO:0001819]