ClinVar

NM_000124.4(ERCC6):c.916G>T (p.Ala306Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

• Chr10: 49524514 (on Assembly GRCh38)
• Chr10: 50732560 (on Assembly GRCh37)

Preferred name:

NM_000124.4(ERCC6):c.916G>T (p.Ala306Ser)

HGVS:

• NC_000010.11:g.49524514C>A
• NG_009442.1:g.19588G>T
• NG_033155.1:g.4768G>T
• NM_000124.4:c.916G>TMANE SELECT
• NM_001277058.2:c.916G>T
• NM_001277059.2:c.916G>T
• NM_001346440.2:c.916G>T
• NP_000115.1:p.Ala306Ser
• NP_001263987.1:p.Ala306Ser
• NP_001263988.1:p.Ala306Ser
• NP_001333369.1:p.Ala306Ser
• LRG_465:g.19588G>T
• NC_000010.10:g.50732560C>A

This HGVS expression did not pass validation

Protein change:

A306S

Links:

dbSNP: rs760618206

NCBI 1000 Genomes Browser:

rs760618206

Molecular consequence:

• NM_000124.4:c.916G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001277058.2:c.916G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001277059.2:c.916G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346440.2:c.916G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3