ClinVar

NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)

Gene:

ABCB11:ATP binding cassette subfamily B member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 168964283 (on Assembly GRCh38)
• Chr2: 169820793 (on Assembly GRCh37)

Preferred name:

NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)

Other names:

p.Ser701Pro

HGVS:

• NC_000002.12:g.168964283A>G
• NG_007374.2:g.72114T>C
• NM_003742.4:c.2101T>CMANE SELECT
• NP_003733.2:p.Ser701Pro
• LRG_1199t1:c.2101T>C
• LRG_1199:g.72114T>C
• LRG_1199p1:p.Ser701Pro
• NC_000002.11:g.169820793A>G
• NG_007374.1:g.72041T>C
• NM_003742.2:c.2101T>C

This HGVS expression did not pass validation

Protein change:

S701P

Links:

dbSNP: rs150572999

NCBI 1000 Genomes Browser:

rs150572999

Molecular consequence:

• NM_003742.4:c.2101T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1