ClinVar

NM_000124.4(ERCC6):c.808G>A (p.Gly270Ser)

Genes:

ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
ERCC6-PGBD3:ERCC6-PGBD3 readthrough [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

• Chr10: 49524622 (on Assembly GRCh38)
• Chr10: 50732668 (on Assembly GRCh37)

Preferred name:

NM_000124.4(ERCC6):c.808G>A (p.Gly270Ser)

HGVS:

• NC_000010.11:g.49524622C>T
• NG_009442.1:g.19480G>A
• NG_033155.1:g.4660G>A
• NM_000124.4:c.808G>AMANE SELECT
• NM_001277058.2:c.808G>A
• NM_001277059.2:c.808G>A
• NM_001346440.2:c.808G>A
• NP_000115.1:p.Gly270Ser
• NP_001263987.1:p.Gly270Ser
• NP_001263988.1:p.Gly270Ser
• NP_001333369.1:p.Gly270Ser
• LRG_465:g.19480G>A
• NC_000010.10:g.50732668C>T

This HGVS expression did not pass validation

Protein change:

G270S

Links:

dbSNP: rs773581901

NCBI 1000 Genomes Browser:

rs773581901

Molecular consequence:

• NM_000124.4:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001277058.2:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001277059.2:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346440.2:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1