ClinVar

NM_201253.3(CRB1):c.4053G>A (p.Val1351=)

Gene:

CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197477711 (on Assembly GRCh38)
• Chr1: 197446841 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.4053G>A (p.Val1351=)

HGVS:

• NC_000001.11:g.197477711G>A
• NG_008483.2:g.281250G>A
• NM_001193640.2:c.3717G>A
• NM_001257965.2:c.3981G>A
• NM_001257966.2:c.2445G>A
• NM_201253.3:c.4053G>AMANE SELECT
• NP_001180569.1:p.Val1239=
• NP_001244894.1:p.Val1327=
• NP_001244895.1:p.Val815=
• NP_957705.1:p.Val1351=
• NC_000001.10:g.197446841G>A
• NR_047563.2:n.4006G>A
• NR_047564.2:n.4456G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs375396992

NCBI 1000 Genomes Browser:

rs375396992

Molecular consequence:

• NR_047563.2:n.4006G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.4456G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.3717G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.3981G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257966.2:c.2445G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.4053G>A - synonymous variant - [Sequence Ontology: SO:0001819]