ClinVar

NM_201253.3(CRB1):c.1914G>T (p.Ser638=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197421742 (on Assembly GRCh38)
• Chr1: 197390872 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.1914G>T (p.Ser638=)

HGVS:

• NC_000001.11:g.197421742G>T
• NG_008483.2:g.225281G>T
• NM_001193640.2:c.1578G>T
• NM_001257965.2:c.1707G>T
• NM_001257966.2:c.1914G>T
• NM_201253.3:c.1914G>TMANE SELECT
• NP_001180569.1:p.Ser526=
• NP_001244894.1:p.Ser569=
• NP_001244895.1:p.Ser638=
• NP_957705.1:p.Ser638=
• NC_000001.10:g.197390872G>T
• NR_047564.2:n.2075G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs780682072

NCBI 1000 Genomes Browser:

rs780682072

Molecular consequence:

• NR_047564.2:n.2075G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.1578G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.1707G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257966.2:c.1914G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.1914G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1