ClinVar

NM_201253.3(CRB1):c.4197C>T (p.Pro1399=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 197477855 (on Assembly GRCh38)
• Chr1: 197446985 (on Assembly GRCh37)

Preferred name:

NM_201253.3(CRB1):c.4197C>T (p.Pro1399=)

HGVS:

• NC_000001.11:g.197477855C>T
• NG_008483.2:g.281394C>T
• NM_001193640.2:c.3861C>T
• NM_001257965.2:c.4125C>T
• NM_001257966.2:c.2589C>T
• NM_201253.3:c.4197C>TMANE SELECT
• NP_001180569.1:p.Pro1287=
• NP_001244894.1:p.Pro1375=
• NP_001244895.1:p.Pro863=
• NP_957705.1:p.Pro1399=
• NC_000001.10:g.197446985C>T
• NR_047563.2:n.4150C>T
• NR_047564.2:n.4600C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2125574291

NCBI 1000 Genomes Browser:

rs2125574291

Molecular consequence:

• NR_047563.2:n.4150C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047564.2:n.4600C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001193640.2:c.3861C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257965.2:c.4125C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257966.2:c.2589C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201253.3:c.4197C>T - synonymous variant - [Sequence Ontology: SO:0001819]