ClinVar

NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 48570639 (on Assembly GRCh38)
• Chr3: 48608072 (on Assembly GRCh37)

Preferred name:

NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)

HGVS:

• NC_000003.12:g.48570639C>T
• NG_007065.1:g.29614G>A
• NM_000094.4:c.7344G>AMANE SELECT
• NP_000085.1:p.Val2448=
• NP_000085.1:p.Val2448=
• LRG_286t1:c.7344G>A
• LRG_286:g.29614G>A
• LRG_286p1:p.Val2448=
• NC_000003.11:g.48608072C>T
• NM_000094.3:c.7344G>A

This HGVS expression did not pass validation

Note:

Although this allele was reported to be intronic in the paper by Gardella et al., 1996 (PubMed 8755915), the sequence in Figure 4 was used to confirm that this is now annotated to be at the 3' end of the exon.

Nucleotide change:

IVS95DS, G-A, -1

Links:

OMIM: 120120.0010; dbSNP: rs201728948

NCBI 1000 Genomes Browser:

rs201728948

Molecular consequence:

• NM_000094.4:c.7344G>A - synonymous variant - [Sequence Ontology: SO:0001819]